ClinVar for Gene (Select 6936) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099024	NM_003203.5(GCFC2):c.878A>T (p.Tyr293Phe)	GCFC2 (Y124F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099023	NM_003203.5(GCFC2):c.847C>G (p.Gln283Glu)	GCFC2 (Q114E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099022	NM_003203.5(GCFC2):c.79G>A (p.Ala27Thr)	GCFC2 (A27T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099021	NM_003203.5(GCFC2):c.701C>T (p.Ala234Val)	GCFC2 (A196V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099020	NM_003203.5(GCFC2):c.2334T>G (p.Ile778Met)	GCFC2 (I740M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099019	NM_003203.5(GCFC2):c.2255T>C (p.Ile752Thr)	GCFC2 (I714T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099018	NM_003203.5(GCFC2):c.193C>A (p.Arg65Ser)	GCFC2, LOC129934170 (R65S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3099017	NM_003203.5(GCFC2):c.1864G>A (p.Val622Ile)	GCFC2 (V453I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099016	NM_003203.5(GCFC2):c.1777T>C (p.Ser593Pro)	GCFC2 (S424P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099015	NM_003203.5(GCFC2):c.1595T>C (p.Met532Thr)	GCFC2 (M363T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099014	NM_003203.5(GCFC2):c.1283C>T (p.Thr428Ile)	GCFC2 (T259I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 2651082	NM_003203.5(GCFC2):c.2020C>T (p.Leu674=)	GCFC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621121	NM_003203.5(GCFC2):c.1599T>G (p.Asp533Glu)	GCFC2 (D533E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591430	NM_003203.5(GCFC2):c.859C>T (p.Arg287Cys)	GCFC2 (R118C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539964	NM_003203.5(GCFC2):c.984T>G (p.Ile328Met)	GCFC2 (I290M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539046	NM_003203.5(GCFC2):c.2203C>T (p.His735Tyr)	GCFC2 (H697Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530674	NM_003203.5(GCFC2):c.1235G>A (p.Arg412Lys)	GCFC2 (R412K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487460	NM_003203.5(GCFC2):c.375A>C (p.Glu125Asp)	GCFC2 (E125D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2469426	NM_003203.5(GCFC2):c.1393T>C (p.Cys465Arg)	GCFC2 (C427R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464454	NM_003203.5(GCFC2):c.779C>G (p.Ser260Cys)	GCFC2 (S260C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410918	NM_003203.5(GCFC2):c.1028A>G (p.Asn343Ser)	GCFC2 (N174S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386161	NM_003203.5(GCFC2):c.1093C>T (p.Arg365Cys)	GCFC2 (R327C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374380	NM_003203.5(GCFC2):c.1045T>G (p.Ser349Ala)	GCFC2 (S180A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370876	NM_003203.5(GCFC2):c.1454A>G (p.Tyr485Cys)	GCFC2 (Y485C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364766	NM_003203.5(GCFC2):c.1508G>A (p.Arg503Gln)	GCFC2 (R334Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356349	NM_003203.5(GCFC2):c.2036A>G (p.Asn679Ser)	GCFC2 (N641S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349057	NM_003203.5(GCFC2):c.1382A>G (p.Gln461Arg)	GCFC2 (Q423R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340374	NM_003203.5(GCFC2):c.226C>T (p.Arg76Cys)	GCFC2, LOC129934170 (R76C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2308088	NM_003203.5(GCFC2):c.986A>G (p.Tyr329Cys)	GCFC2 (Y329C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296504	NM_003203.5(GCFC2):c.1337A>G (p.Gln446Arg)	GCFC2 (Q277R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286987	NM_003203.5(GCFC2):c.1471A>T (p.Ser491Cys)	GCFC2 (S453C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278607	NM_003203.5(GCFC2):c.2066C>A (p.Ala689Asp)	GCFC2 (A520D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275981	NM_003203.5(GCFC2):c.1934G>A (p.Arg645Lys)	GCFC2 (R476K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275768	NM_003203.5(GCFC2):c.399G>C (p.Lys133Asn)	GCFC2 (K133N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2250034	NM_003203.5(GCFC2):c.193C>G (p.Arg65Gly)	GCFC2, LOC129934170 (R65G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2249910	NM_003203.5(GCFC2):c.439C>T (p.Arg147Cys)	GCFC2 (R147C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2225223	NM_003203.5(GCFC2):c.155C>T (p.Ala52Val)	GCFC2, LOC129934170 (A52V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2206956	NM_003203.5(GCFC2):c.877T>A (p.Tyr293Asn)	GCFC2 (Y124N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
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 1526829	GRCh37/hg19 2p12(chr2:75265687-77573171)	EVA1A, GCFC2 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1340552	GRCh37/hg19 2p12(chr2:75443577-76807661)x3	EVA1A, GCFC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 980435	GRCh37/hg19 2p12(chr2:75443576-76807661)x3	EVA1A, GCFC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 713045	NM_003203.5(GCFC2):c.1931A>G (p.Glu644Gly)	GCFC2 (E644G +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 689089	GRCh37/hg19 2p13.1-12(chr2:74928349-77095981)x3	EVA1A, GCFC2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 688340	GRCh37/hg19 2p12(chr2:75605955-76387104)x3	EVA1A, GCFC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 686774	GRCh37/hg19 2p12(chr2:75793425-78869861)x4	EVA1A, GCFC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 685860	GRCh37/hg19 2p13.1-12(chr2:74972080-83043893)x1	CTNNA2, EVA1A +11 more	Copy number loss	not provided	GPathogenic
Select item 562678	GRCh37/hg19 2p13.1-11.2(chr2:74527522-89125488)x1	ATOH8, AUP1 +78 more	Copy number loss	not provided	GPathogenic
Select item 562623	GRCh37/hg19 2p12(chr2:75185910-76183197)x3	TACR1, MRPL19 +3 more	Copy number gain	not provided	GUncertain significance
Select item 560065	Single allele	AAK1, ACTG2 +127 more	Duplication	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
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 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	SFTPB, SH2D6 +81 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 146709	GRCh38/hg38 2p12(chr2:75252967-76559478)x3	EVA1A, EVA1A-AS +21 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Links from Gene

Items: 59