Related gene-specific medical variations for Gene (Select 23524) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3449582	NM_016333.4(SRRM2):c.362C>G (p.Thr121Ser)	LOC126862261, SRRM2 (T121S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3449574	NM_016333.4(SRRM2):c.404T>C (p.Leu135Pro)	LOC126862261, SRRM2 (L135P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3449540	NM_016333.4(SRRM2):c.454G>A (p.Asp152Asn)	LOC126862261, SRRM2 (D152N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3449538	NM_016333.4(SRRM2):c.407G>A (p.Arg136His)	LOC126862261, SRRM2 (R136H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3449526	NM_016333.4(SRRM2):c.485A>C (p.Gln162Pro)	LOC126862261, SRRM2 (Q162P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3393134	NM_016333.4(SRRM2):c.2764ATA[1] (p.Ile923del)	SRRM2 (I923del)	Microsatellite	Intellectual developmental disorder, autosomal dominant 72	GUncertain significance
Select item 3389695	NM_016333.4(SRRM2):c.321_327dup (p.Glu110fs)	SRRM2, LOC126862261 (E110fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3375415	NM_016333.4(SRRM2):c.454G>C (p.Asp152His)	LOC126862261, SRRM2 (D152H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3369315	NM_016333.4(SRRM2):c.569A>G (p.Lys190Arg)	LOC126862261, SRRM2 (K190R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363995	NM_016333.4(SRRM2):c.460C>A (p.Gln154Lys)	LOC126862261, SRRM2 (Q154K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362189	NM_016333.4(SRRM2):c.5581T>G (p.Trp1861Gly)	SRRM2 (W1861G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361892	NM_016333.4(SRRM2):c.2387G>C (p.Arg796Pro)	SRRM2 (R796P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361484	NM_016333.4(SRRM2):c.745C>G (p.Arg249Gly)	SRRM2 (R249G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360800	NM_016333.4(SRRM2):c.6908C>T (p.Pro2303Leu)	SRRM2 (P2303L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360545	NM_016333.4(SRRM2):c.5885C>T (p.Thr1962Ile)	SRRM2 (T1962I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360249	NM_016333.4(SRRM2):c.3006A>T (p.Gln1002His)	SRRM2 (Q1002H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359889	NM_016333.4(SRRM2):c.7277C>T (p.Ser2426Phe)	SRRM2 (S2426F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359768	NM_016333.4(SRRM2):c.266A>T (p.Glu89Val)	SRRM2 (E89V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359126	NM_016333.4(SRRM2):c.5653C>T (p.Arg1885Ter)	SRRM2 (R1885*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 72	GPathogenic
Select item 3359049	NM_016333.4(SRRM2):c.1585C>T (p.Gln529Ter)	SRRM2 (Q529*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 72	GLikely pathogenic
Select item 3358975	NM_016333.4(SRRM2):c.205C>T (p.Arg69Ter)	SRRM2 (R69*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal dominant 72	GLikely pathogenic
Select item 3252833	NM_016333.4(SRRM2):c.418G>C (p.Gly140Arg)	LOC126862261, SRRM2 (G140R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3170152	NM_016333.4(SRRM2):c.509C>A (p.Pro170His)	LOC126862261, SRRM2 (P170H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170146	NM_016333.4(SRRM2):c.488C>T (p.Pro163Leu)	LOC126862261, SRRM2 (P163L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3170142	NM_016333.4(SRRM2):c.467G>A (p.Arg156His)	LOC126862261, SRRM2 (R156H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065315	NM_016333.4(SRRM2):c.7857CTC[9] (p.Ser2648_Pro2649insSerSer)	SRRM2	Microsatellite (inframe_insertion)	Intellectual developmental disorder, autosomal dominant 72	GUncertain significance
Select item 3064738	NM_016333.4(SRRM2):c.3814_3816del (p.Pro1272del)	SRRM2 (P1272del)	Deletion (inframe_deletion)	Intellectual developmental disorder, autosomal dominant 72	GUncertain significance
Select item 3064119	NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)	SRRM2 (S395fs)	Duplication (frameshift variant)	Intellectual developmental disorder, autosomal dominant 72	GLikely pathogenic
Select item 2631589	NM_016333.4(SRRM2):c.339_340dup (p.Gln114fs)	LOC126862261, SRRM2 (Q114fs)	Duplication (frameshift variant)	SRRM2-related disorder	GLikely pathogenic
Select item 2308519	NM_016333.4(SRRM2):c.449C>T (p.Ser150Phe)	LOC126862261, SRRM2 (S150F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273475	NM_016333.4(SRRM2):c.499C>G (p.Pro167Ala)	LOC126862261, SRRM2 (P167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245883	NM_016333.4(SRRM2):c.317G>A (p.Gly106Glu)	LOC126862261, SRRM2 (G106E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222294	NM_016333.4(SRRM2):c.436G>A (p.Val146Ile)	LOC126862261, SRRM2 (V146I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696541	NM_016333.4(SRRM2):c.3206C>G (p.Ser1069Cys)	SRRM2 (S1069C)	Single nucleotide variant (missense variant)	SRRM2-related Neurodevelopmental disorder	GUncertain significance
Select item 773053	NM_016333.4(SRRM2):c.327G>A (p.Glu109=)	LOC126862261, SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734429	NM_016333.4(SRRM2):c.468T>C (p.Arg156=)	LOC126862261, SRRM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 36