ClinVar for Gene (Select 822) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3137012	NM_001747.4(CAPG):c.92C>T (p.Pro31Leu)	CAPG (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137011	NM_001747.4(CAPG):c.733A>C (p.Asn245His)	CAPG (N230H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3137010	NM_001747.4(CAPG):c.335G>A (p.Arg112Gln)	CAPG (R112Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3137009	NM_001747.4(CAPG):c.107A>G (p.Gln36Arg)	CAPG (Q36R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589355	NM_001747.4(CAPG):c.776G>A (p.Gly259Glu)	CAPG (G259E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549998	NM_001747.4(CAPG):c.781A>G (p.Met261Val)	CAPG (M230V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523500	NM_001747.4(CAPG):c.286C>T (p.Arg96Cys)	CAPG (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471221	NM_001747.4(CAPG):c.457C>T (p.Arg153Trp)	CAPG (R153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408285	NM_001747.4(CAPG):c.241G>C (p.Ala81Pro)	CAPG (A81P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407907	NM_001747.4(CAPG):c.445C>T (p.Arg149Cys)	CAPG (R149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407474	NM_001747.4(CAPG):c.212G>A (p.Arg71Gln)	CAPG (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369150	NM_001747.4(CAPG):c.272G>A (p.Arg91Gln)	CAPG (R91Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305688	NM_001747.4(CAPG):c.289G>C (p.Glu97Gln)	CAPG (E97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227294	NM_001747.4(CAPG):c.842A>G (p.Asp281Gly)	CAPG (D266G +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 1526840	GRCh37/hg19 2p12-11.2(chr2:82486900-87322042)	ATOH8, C2orf68 +35 more	Copy number loss	not specified	GPathogenic
Select item 1180533	GRCh37/hg19 2p12-11.2(chr2:81209244-86688030)x1	ELMOD3, GGCX +27 more	Copy number loss	not provided	GPathogenic
Select item 814278	GRCh37/hg19 2p11.2(chr2:85357332-85685465)x3	SH2D6, TCF7L1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 785969	NM_001747.4(CAPG):c.332del (p.Pro111fs)	CAPG (P111fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 747161	NM_001747.4(CAPG):c.861C>T (p.Asn287=)	CAPG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731207	NM_001747.4(CAPG):c.680A>G (p.Lys227Arg)	CAPG (K212R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 685879	GRCh37/hg19 2p12-11.2(chr2:77907114-87330965)x1	ATOH8, C2orf68 +41 more	Copy number loss	not provided	GPathogenic
Select item 684549	NM_001747.4(CAPG):c.454G>T (p.Glu152Ter)	CAPG (E152*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
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 562661	GRCh37/hg19 2p12-11.2(chr2:82517612-86262705)x3	MAT2A, TCF7L1 +22 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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic
Select item 442633	GRCh37/hg19 2p13.1-11.2(chr2:74365484-89129064)x1	REEP1, REG1A +81 more	Copy number loss	See cases	GPathogenic
Select item 221379	GRCh37/hg19 2p11.2(chr2:85598271-85843453)x3	C2orf68, CAPG +9 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 35