ClinVar for MedGen (Select 343973) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3593268	NM_182961.4(SYNE1):c.3389C>G (p.Thr1130Ser)	SYNE1 (T1130S +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 3593267	NM_182961.4(SYNE1):c.12190C>G (p.Gln4064Glu)	SYNE1 (Q4064E +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 3593265	NM_182961.4(SYNE1):c.18973-11_18973-9delinsATG	SYNE1	Indel (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 3593264	NM_182961.4(SYNE1):c.25999C>A (p.Gln8667Lys)	SYNE1 (Q8619K +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 3391389	NM_182961.4(SYNE1):c.1792_1793del (p.Val599fs)	SYNE1 (V599fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3391388	NM_182961.4(SYNE1):c.7686del (p.Met2562fs)	SYNE1 (M2562fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3391261	NM_182961.4(SYNE1):c.10874C>T (p.Thr3625Ile)	SYNE1 (T3625I)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3391260	NM_182961.4(SYNE1):c.20132G>T (p.Ser6711Ile)	SYNE1 (S6640I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3383018	NM_182961.4(SYNE1):c.15438+2T>C	SYNE1	Single nucleotide variant (splice donor variant)	Autosomal recessive ataxia, Beauce type +2 more	GLikely pathogenic
Select item 3382674	NM_182961.4(SYNE1):c.7642C>T (p.Gln2548Ter)	SYNE1 (Q2548* +1 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GLikely pathogenic
Select item 3382673	NM_182961.4(SYNE1):c.3925C>T (p.Arg1309Ter)	SYNE1 (R1309* +1 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GPathogenic
Select item 3377368	NM_182961.4(SYNE1):c.7849C>T (p.Arg2617Trp)	SYNE1 (R2617W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3377367	NM_182961.4(SYNE1):c.8783C>A (p.Ala2928Asp)	SYNE1, SYNE1-AS1 (A2928D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3377365	NM_182961.4(SYNE1):c.19882G>A (p.Asp6628Asn)	SYNE1 (D6557N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3377196	NM_182961.4(SYNE1):c.18972+1G>T	SYNE1	Single nucleotide variant (splice donor variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3376894	NM_182961.4(SYNE1):c.25271_25273delinsA (p.Leu8424fs)	SYNE1 (L602fs +3 more)	Indel (frameshift variant)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 3376801	NM_182961.4(SYNE1):c.11560del (p.Ala3854fs)	SYNE1 (A3839fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 3367198	NM_182961.4(SYNE1):c.14584C>T (p.Gln4862Ter)	SYNE1 (Q4791* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 3362829	NM_182961.4(SYNE1):c.13612G>T (p.Glu4538Ter)	SYNE1 (E4467* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3338093	NM_182961.4(SYNE1):c.13567_13570del (p.Glu4523fs)	SYNE1 (E4452fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3338086	NM_182961.4(SYNE1):c.10295_10299del (p.Ala3432fs)	SYNE1 (A3432fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3338060	NM_182961.4(SYNE1):c.1903dup (p.Met635fs)	SYNE1 (M635fs +1 more)	Duplication (frameshift variant)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 3256786	NM_182961.4(SYNE1):c.23146-2A>G	SYNE1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3256785	NM_182961.4(SYNE1):c.22045-2A>G	SYNE1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3246024	NC_000006.11:g.(?_152570395)_(152837167_?)del	SYNE1, SYNE1-AS1	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely pathogenic
Select item 3246023	NC_000006.11:g.(?_152949380)_(154441965_?)del	MTRF1L, FBXO5 +5 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 3246021	NC_000006.11:g.(?_152650845)_(152653045_?)del	SYNE1	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 3068115	NM_182961.4(SYNE1):c.18646_18654del (p.Leu6216_Gln6218del)	SYNE1	Deletion (inframe_deletion)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3065981	NM_182961.4(SYNE1):c.20762G>T (p.Ser6921Ile)	SYNE1 (S6850I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3065227	NM_182961.2:c.12795_14955del	SYNE1	Deletion	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3065226	NM_182961.4(SYNE1):c.13195del (p.Met4399fs)	SYNE1 (M4328fs +1 more)	Deletion (frameshift variant)	Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 3064918	NM_182961.4(SYNE1):c.662G>A (p.Arg221Gln)	SYNE1 (R221Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type	GUncertain significance
Select item 3061957	NM_182961.4(SYNE1):c.25006C>T (p.Arg8336Ter)	SYNE1 (R514* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia, Beauce type	GPathogenic
Select item 2953851	NM_182961.4(SYNE1):c.4782A>G (p.Glu1594=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2953429	NM_182961.4(SYNE1):c.402+18C>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2953370	NM_182961.4(SYNE1):c.611G>A (p.Gly204Glu)	SYNE1 (G204E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2953322	NM_182961.4(SYNE1):c.8652+3C>T	LOC126859838, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2952575	NM_182961.4(SYNE1):c.2209G>T (p.Val737Phe)	SYNE1 (V744F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2952533	NM_182961.4(SYNE1):c.6586C>T (p.Leu2196=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2952510	NM_182961.4(SYNE1):c.19894-20T>C	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2952153	NM_182961.4(SYNE1):c.9480T>C (p.Asn3160=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2952135	NM_182961.4(SYNE1):c.408A>G (p.Glu136=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2951824	NM_182961.4(SYNE1):c.6680T>A (p.Leu2227Gln)	SYNE1 (L2227Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +1 more	GUncertain significance
Select item 2951647	NM_182961.4(SYNE1):c.4789-13G>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2951621	NM_182961.4(SYNE1):c.13998C>G (p.Val4666=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2951217	NM_182961.4(SYNE1):c.14247A>G (p.Pro4749=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2950958	NM_182961.4(SYNE1):c.3258G>A (p.Val1086=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2950682	NM_182961.4(SYNE1):c.11667C>T (p.Asp3889=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2950310	NM_182961.4(SYNE1):c.9261C>A (p.Thr3087=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2950226	NM_182961.4(SYNE1):c.22356G>A (p.Gln7452=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2950031	NM_182961.4(SYNE1):c.20082G>A (p.Leu6694=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2949865	NM_182961.4(SYNE1):c.22346+12A>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2949782	NM_182961.4(SYNE1):c.9178A>G (p.Asn3060Asp)	SYNE1 (N3067D +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2949693	NM_182961.4(SYNE1):c.2214T>C (p.Ser738=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2949552	NM_182961.4(SYNE1):c.14319A>T (p.Leu4773Phe)	SYNE1 (L4702F +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2949517	NM_182961.4(SYNE1):c.18823C>T (p.Pro6275Ser)	SYNE1 (P6275S +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2949455	NM_182961.4(SYNE1):c.23378G>T (p.Cys7793Phe)	SYNE1 (C7793F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2949276	NM_182961.4(SYNE1):c.6907A>G (p.Thr2303Ala)	SYNE1 (T2303A +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2948940	NM_182961.4(SYNE1):c.19260+1G>C	SYNE1	Single nucleotide variant (splice donor variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely pathogenic
Select item 2948740	NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)	SYNE1 (E5834* +1 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 2948539	NM_182961.4(SYNE1):c.26095-15G>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2948505	NM_182961.4(SYNE1):c.23628-17C>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2948469	NM_182961.4(SYNE1):c.4149+14C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2948383	NM_182961.4(SYNE1):c.12887A>T (p.Lys4296Ile)	SYNE1 (K4296I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2948382	NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)	SYNE1 (D4297fs +1 more)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 2948360	NM_182961.4(SYNE1):c.11902-21_11902-19dup	SYNE1	Duplication (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2948254	NM_182961.4(SYNE1):c.19158A>C (p.Gly6386=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +2 more	GConflicting classifications of pathogenicity
Select item 2948124	NM_182961.4(SYNE1):c.25120-9T>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2947605	NM_182961.4(SYNE1):c.3669+13C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2947515	NM_182961.4(SYNE1):c.15428C>T (p.Ser5143Leu)	SYNE1 (S5072L +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2947494	NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)	SYNE1 (Q2475* +1 more)	Single nucleotide variant (nonsense)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 2947475	NM_182961.4(SYNE1):c.20687C>T (p.Pro6896Leu)	SYNE1 (P6825L +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2947308	NM_182961.4(SYNE1):c.18039C>G (p.Leu6013=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2947186	NM_182961.4(SYNE1):c.23883C>T (p.Ala7961=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2947067	NM_182961.4(SYNE1):c.4689+13C>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2946718	NM_182961.4(SYNE1):c.20619C>T (p.Asp6873=)	SYNE1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2946699	NM_182961.4(SYNE1):c.1563A>G (p.Ser521=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2946629	NM_182961.4(SYNE1):c.4425G>A (p.Ser1475=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2946295	NM_182961.4(SYNE1):c.310-8T>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945995	NM_182961.4(SYNE1):c.18147C>T (p.Val6049=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945854	NM_182961.4(SYNE1):c.19968C>A (p.Val6656=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945830	NM_182961.4(SYNE1):c.4689+16C>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945748	NM_182961.4(SYNE1):c.20629C>T (p.Leu6877=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945747	NM_182961.4(SYNE1):c.21179C>T (p.Ala7060Val)	SYNE1 (A6989V +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2945746	NM_182961.4(SYNE1):c.21181C>T (p.Leu7061=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945690	NM_182961.4(SYNE1):c.22045-11T>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945437	NM_182961.4(SYNE1):c.4976+10A>G	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945375	NM_182961.4(SYNE1):c.15636G>A (p.Glu5212=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945372	NM_182961.4(SYNE1):c.1539C>T (p.Leu513=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945323	NM_182961.4(SYNE1):c.11076A>C (p.Gln3692His)	SYNE1 (Q3677H +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2945169	NM_182961.4(SYNE1):c.4890G>A (p.Ala1630=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945128	NM_182961.4(SYNE1):c.19996C>T (p.Leu6666=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2945063	NM_182961.4(SYNE1):c.2835T>A (p.Ile945=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2944931	NM_182961.4(SYNE1):c.25011A>G (p.Gln8337=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2944801	NM_182961.4(SYNE1):c.20008G>A (p.Ala6670Thr)	SYNE1 (A6599T +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GUncertain significance
Select item 2944369	NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)	SYNE1 (F1221fs +1 more)	Deletion (frameshift variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 2944301	NM_182961.4(SYNE1):c.5101-8T>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2943836	NM_182961.4(SYNE1):c.4824G>C (p.Ala1608=)	SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GLikely benign
Select item 2943513	NM_182961.4(SYNE1):c.2881C>A (p.Arg961=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign
Select item 2943241	NM_182961.4(SYNE1):c.4150-20G>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +1 more	GLikely benign

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