ClinVar for Gene (Select 2995) - ClinVar

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

Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247492	NC_000002.11:g.(?_127451420)_(127451543_?)dup	GYPC	Duplication	not provided	GUncertain significance
Select item 3242294	GRCh37/hg19 2q14.3(chr2:123505936-127418482)x1	CNTNAP5, GYPC	Copy number loss	not provided	GUncertain significance
Select item 3103379	NM_002101.5(GYPC):c.46C>T (p.Leu16Phe)	GYPC, LOC129934706 (L16F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3103377	NM_002101.5(GYPC):c.235G>A (p.Val79Ile)	GYPC (V60I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103376	NM_002101.5(GYPC):c.179T>C (p.Val60Ala)	GYPC (V60A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 2689192	NM_002101.5(GYPC):c.257G>T (p.Arg86Leu)	GYPC (R65L +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689191	NM_002101.5(GYPC):c.262A>C (p.Lys88Gln)	GYPC (K67Q +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689190	NM_002101.5(GYPC):c.214G>A (p.Val72Ile)	GYPC (V51I +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689189	NM_002101.5(GYPC):c.198T>G (p.Ile66Met)	GYPC (I45M +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689188	NM_002101.5(GYPC):c.254A>T (p.Tyr85Phe)	GYPC (Y64F +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689187	NM_002101.5(GYPC):c.150G>C (p.Glu50Asp)	GYPC (E29D +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2689186	NM_002101.5(GYPC):c.134C>G (p.Pro45Arg)	GYPC (P24R +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689185	NM_002101.5(GYPC):c.244C>T (p.Arg82Cys)	GYPC (R61C +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689184	NM_002101.5(GYPC):c.109C>A (p.Pro37Thr)	GYPC (P16T +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689183	NM_002101.5(GYPC):c.44G>A (p.Ser15Asn)	GYPC, LOC129934706 (S15N)	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, Gerbich system	GUncertain significance
Select item 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2682745	NM_002101.5(GYPC):c.257G>A (p.Arg86Gln)	GYPC (R65Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682744	NM_002101.5(GYPC):c.148G>A (p.Glu50Lys)	GYPC (E29K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2651325	NM_002101.5(GYPC):c.60G>A (p.Pro20=)	GYPC	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2466417	NM_002101.5(GYPC):c.296C>T (p.Thr99Met)	GYPC (T78M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456954	NM_002101.5(GYPC):c.269C>T (p.Thr90Met)	GYPC (T71M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432352	NM_002101.5(GYPC):c.194T>C (p.Val65Ala)	GYPC (V44A +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2424355	NC_000002.11:g.(?_127451420)_(127451543_?)del	GYPC	Deletion	not provided	GUncertain significance
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	IWS1, CYP27C1 +15 more	Deletion	not provided	GPathogenic
Select item 2327104	NM_002101.5(GYPC):c.172G>A (p.Asp58Asn)	GYPC (D37N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218146	NM_002101.5(GYPC):c.211A>G (p.Ile71Val)	GYPC (I71V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1693821	NM_002101.5(GYPC):c.167T>A (p.Ile56Lys)	GYPC (I35K +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system +2 more	GUncertain significance
Select item 1693820	NM_002101.5(GYPC):c.158C>T (p.Thr53Ile)	GYPC (T32I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693818	NM_002101.5(GYPC):c.107-3C>T	GYPC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1341988	GRCh37/hg19 2q14.2-14.3(chr2:120628484-127658188)x1	CNTNAP5, EPB41L5 +11 more	Copy number loss	not provided	GPathogenic
Select item 1340940	GRCh37/hg19 2q14.3(chr2:127368496-127436690)x1	GYPC	Copy number loss	not provided	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1295027	NM_002101.5(GYPC):c.333A>C (p.Gly111=)	GYPC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1294938	NM_002101.5(GYPC):c.191-221C>T	GYPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262546	NM_002101.5(GYPC):c.191-261A>C	GYPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258136	NM_002101.5(GYPC):c.191-43G>A	GYPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257983	NM_002101.5(GYPC):c.50-68G>A	GYPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257288	NM_002101.5(GYPC):c.191-262del	GYPC	Deletion (intron variant)	not provided	GBenign
Select item 1242153	NC_000002.12:g.126656040G>A	GYPC, LOC129934705	Single nucleotide variant	not provided	GBenign
Select item 1238066	NM_002101.5(GYPC):c.191-136C>T	GYPC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 1163798	NM_002101.5(GYPC):c.248A>G (p.Tyr83Cys)	GYPC (Y62C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163797	NM_002101.5(GYPC):c.107-26C>T	GYPC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 814302	GRCh37/hg19 2q14.3(chr2:126675454-127424849)x3	GYPC	Copy number gain	not provided	GUncertain significance
Select item 814297	GRCh37/hg19 2q14.2-14.3(chr2:118872395-128069813)x1	BIN1, PTPN4 +24 more	Copy number loss	not provided	GPathogenic
Select item 779867	NM_002101.5(GYPC):c.190+8C>G	GYPC	Single nucleotide variant (intron variant)	GYPC-related disorder +1 more	GBenign
Select item 721097	NM_002101.5(GYPC):c.59C>T (p.Pro20Leu)	GYPC (P20L)	Single nucleotide variant (5 prime UTR variant +2 more)	GYPC-related disorder +1 more	GBenign
Select item 719629	NM_002101.5(GYPC):c.212T>C (p.Ile71Thr)	GYPC (I50T +2 more)	Single nucleotide variant (missense variant)	GYPC-related disorder +1 more	GBenign
Select item 562625	GRCh37/hg19 2q14.3(chr2:126426023-127463593)x3	GYPC	Copy number gain	not provided	GUncertain significance
Select item 562593	GRCh37/hg19 2q14.3(chr2:127188038-127725566)x1	GYPC	Copy number loss	not provided	GUncertain significance
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443674	GRCh37/hg19 2q14.3(chr2:126675454-127511804)x3	GYPC	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 58902	GRCh38/hg38 2q14.3(chr2:125574480-126753377)x3	GYPC, LINC01889 +11 more	Copy number gain	See cases	GUncertain significance
Select item 17727	NM_002101.5(GYPC):c.40C>T (p.Leu14Phe)	GYPC, LOC129934706 (L14F)	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, Gerbich system	GAffects
Select item 17726	NM_002101.5(GYPC):c.23A>G (p.Asn8Ser)	GYPC, LOC129934706 (N8S)	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, Gerbich system	GAffects
Select item 17725	NM_002101.4(GYPC):c.107_190del	GYPC	Deletion	Malaria, resistance to +1 more	GPathogenic; protective
Select item 17724	NM_016815.4(GYPC):c.50-3609_50-3553del	GYPC	Deletion (intron variant)	Blood group, Gerbich system	GAffects

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: 75