ClinVar for Gene (Select 84656) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3520791	NM_032569.4(GLYR1):c.1136G>T (p.Gly379Val)	GLYR1 (G298V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3520790	NM_032569.4(GLYR1):c.991G>A (p.Val331Met)	GLYR1 (V244M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3520789	NM_032569.4(GLYR1):c.557C>G (p.Ser186Cys)	GLYR1 (S186C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3520788	NM_032569.4(GLYR1):c.287A>G (p.Lys96Arg)	GLYR1 (K96R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3520787	NM_032569.4(GLYR1):c.1228T>C (p.Tyr410His)	GLYR1 (Y329H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3520786	NM_032569.4(GLYR1):c.1257G>A (p.Ala419=)	GLYR1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3520784	NM_032569.4(GLYR1):c.541C>T (p.Leu181Phe)	GLYR1 (L100F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3520783	NM_032569.4(GLYR1):c.1535C>T (p.Ala512Val)	GLYR1 (A506V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3391856	GRCh37/hg19 16p13.3(chr16:513767-5555136)x3	PKD1, PKMYT1 +168 more	Copy number gain	not provided	GPathogenic
Select item 3391855	GRCh37/hg19 16p13.3-13.13(chr16:85881-12268399)x3	ABAT, ABCA3 +221 more	Copy number gain	not provided	GPathogenic
Select item 3281693	NM_032569.4(GLYR1):c.379C>T (p.Arg127Cys)	GLYR1 (R127C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281692	NM_032569.4(GLYR1):c.514G>A (p.Gly172Ser)	GLYR1 (G172S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281690	NM_032569.4(GLYR1):c.328C>G (p.Arg110Gly)	GLYR1 (R110G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3281689	NM_032569.4(GLYR1):c.935G>A (p.Arg312His)	GLYR1 (R231H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100450	NM_032569.4(GLYR1):c.995C>T (p.Ser332Leu)	GLYR1 (S326L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100449	NM_032569.4(GLYR1):c.724T>C (p.Cys242Arg)	GLYR1 (C242R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100448	NM_032569.4(GLYR1):c.703A>G (p.Ile235Val)	GLYR1 (I154V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100447	NM_032569.4(GLYR1):c.667A>T (p.Ser223Cys)	GLYR1 (S142C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100445	NM_032569.4(GLYR1):c.616G>A (p.Ala206Thr)	GLYR1 (A125T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100444	NM_032569.4(GLYR1):c.595G>A (p.Ala199Thr)	GLYR1 (A118T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100443	NM_032569.4(GLYR1):c.583G>A (p.Gly195Arg)	GLYR1 (G114R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100442	NM_032569.4(GLYR1):c.560G>C (p.Ser187Thr)	GLYR1 (S106T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100441	NM_032569.4(GLYR1):c.479T>C (p.Leu160Pro)	GLYR1 (L160P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3100440	NM_032569.4(GLYR1):c.245C>T (p.Ala82Val)	GLYR1 (A82V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100439	NM_032569.4(GLYR1):c.1570G>T (p.Ala524Ser)	GLYR1 (A443S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3100438	NM_032569.4(GLYR1):c.1134G>T (p.Arg378Ser)	GLYR1 (R297S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2489978	NM_032569.4(GLYR1):c.172G>A (p.Glu58Lys)	GLYR1 (E58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	CDIP1, CLUAP1 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2407937	NM_032569.4(GLYR1):c.991G>T (p.Val331Leu)	GLYR1 (V250L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391823	NM_032569.4(GLYR1):c.340A>T (p.Ser114Cys)	GLYR1 (S114C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2388040	NM_032569.4(GLYR1):c.638C>T (p.Ala213Val)	GLYR1 (A132V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335702	NM_032569.4(GLYR1):c.418A>G (p.Met140Val)	GLYR1 (M140V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2297272	NM_032569.4(GLYR1):c.422G>A (p.Gly141Glu)	GLYR1 (G141E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290333	NM_032569.4(GLYR1):c.390C>A (p.Ser130Arg)	GLYR1 (S130R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2247916	NM_032569.4(GLYR1):c.1436G>A (p.Ser479Asn)	GLYR1 (S398N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239084	NM_032569.4(GLYR1):c.380G>A (p.Arg127His)	GLYR1 (R127H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 522837	NM_032569.4(GLYR1):c.584G>T (p.Gly195Val)	GLYR1 (G195V +1 more)	Single nucleotide variant (missense variant +1 more)	GLYR1-related disorder	GUncertain significance
Select item 522836	NM_032569.4(GLYR1):c.596C>T (p.Ala199Val)	GLYR1 (A199V +1 more)	Single nucleotide variant (missense variant +1 more)	GLYR1-related disorder	GUncertain significance
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395287	GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1	ANKS3, DNAAF8 +9 more	Copy number loss	See cases	GUncertain significance
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 57415	GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1	ANKS3, C16orf96 +30 more	Copy number loss	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 68