ClinVar for Gene (Select 64098) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304425	NM_022141.7(PARVG):c.920G>A (p.Arg307Lys)	PARVG (R307K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208878	NM_022141.7(PARVG):c.912C>A (p.Ser304Arg)	PARVG (S304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208877	NM_022141.7(PARVG):c.892G>A (p.Val298Met)	PARVG (V298M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208876	NM_022141.7(PARVG):c.856G>A (p.Gly286Ser)	PARVG (G286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208875	NM_022141.7(PARVG):c.814C>T (p.Leu272=)	PARVG	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3208874	NM_022141.7(PARVG):c.802C>T (p.Pro268Ser)	PARVG (P268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208873	NM_022141.7(PARVG):c.638A>C (p.Lys213Thr)	PARVG (K213T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208872	NM_022141.7(PARVG):c.614C>G (p.Ala205Gly)	PARVG (A205G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208871	NM_022141.7(PARVG):c.59C>T (p.Ala20Val)	PARVG (A20V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208870	NM_022141.7(PARVG):c.565G>T (p.Asp189Tyr)	PARVG (D189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208869	NM_022141.7(PARVG):c.556T>C (p.Tyr186His)	PARVG (Y186H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208868	NM_022141.7(PARVG):c.499A>G (p.Ile167Val)	PARVG (I167V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208867	NM_022141.7(PARVG):c.286G>A (p.Ala96Thr)	PARVG (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208866	NM_022141.7(PARVG):c.23A>G (p.Asp8Gly)	PARVG (D8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208865	NM_022141.7(PARVG):c.197G>A (p.Arg66His)	PARVG (R66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208864	NM_022141.7(PARVG):c.104C>T (p.Pro35Leu)	PARVG (P35L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062463	GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1	ARHGAP8, ATXN10 +24 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062451	GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1	A4GALT, ADM2 +78 more	Copy number loss	not specified	GPathogenic
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 3062449	GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1	ACR, ADM2 +69 more	Copy number loss	not specified	GPathogenic
Select item 3062442	GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1	CELSR1, CERK +64 more	Copy number loss	not specified	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic
Select item 2559697	NM_022141.7(PARVG):c.797A>C (p.Asn266Thr)	PARVG (N266T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530291	NM_022141.7(PARVG):c.535T>G (p.Leu179Val)	PARVG (L179V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520268	NM_022141.7(PARVG):c.589G>A (p.Val197Ile)	PARVG (V197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499652	GRCh38/hg38 22q13.31(chr22:44184196-45239435)	ARHGAP8, KIAA0930 +39 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2411777	NM_022141.7(PARVG):c.989C>T (p.Pro330Leu)	PARVG (P330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351515	NM_022141.7(PARVG):c.476A>G (p.Asn159Ser)	PARVG (N159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351316	NM_022141.7(PARVG):c.385G>A (p.Glu129Lys)	PARVG (E129K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270869	NM_022141.7(PARVG):c.955A>G (p.Lys319Glu)	PARVG (K319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236906	NM_022141.7(PARVG):c.787C>G (p.Leu263Val)	PARVG (L263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808373	GRCh37/hg19 22q13.31(chr22:44485556-44933077)x3	PARVB, PARVG +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808266	GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1	ADM2, ALG12 +64 more	Copy number loss	not provided	GPathogenic
Select item 1807817	GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1	ACR, ADM2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1803808	GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3	MIOX, MPPED1 +76 more	Copy number gain	not provided	GPathogenic
Select item 1526739	GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660)	ARHGAP8, ATXN10 +33 more	Copy number loss	not specified	GPathogenic
Select item 1526738	GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838)	A4GALT, ACR +82 more	Copy number loss	not specified	GPathogenic
Select item 1330161	GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1	MIOX, PPP6R2 +96 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 997819	Single allele	BIK, BRD1 +94 more	Deletion	Intellectual disability	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979610	GRCh37/hg19 22q13.31(chr22:44541184-44783321)x3	PARVB, PARVG +1 more	Copy number gain	not provided	GUncertain significance
Select item 976870	NC_000022.11:g.43802117_50806121del	PRR5-ARHGAP8, RABL2B +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	ACR, ADM2 +471 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 816565	GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	A4GALT, ACO2 +126 more	Copy number gain	not provided	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 625737	GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759)	ARHGAP8, CPT1B +92 more	Copy number loss	Phelan-McDermid syndrome	GPathogenic
Select item 565054	GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1	A4GALT, ACR +83 more	Copy number loss	not provided	GPathogenic
Select item 565053	GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1	A4GALT, ACR +79 more	Copy number loss	not provided	GPathogenic
Select item 565052	GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1	ACR, ADM2 +77 more	Copy number loss	not provided	GPathogenic
Select item 565008	GRCh37/hg19 22q13.2-13.31(chr22:44023172-44744568)x3	PNPLA5, EFCAB6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 443581	GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1	A4GALT, ACR +79 more	Copy number loss	See cases	GPathogenic
Select item 442593	GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1	ACR, ADM2 +70 more	Copy number loss	See cases	GPathogenic
Select item 441741	GRCh37/hg19 22q13.31(chr22:44382852-45007914)x1	PARVB, PARVG +3 more	Copy number loss	See cases	GUncertain significance
Select item 441707	GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1	ACR, ADM2 +77 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 441574	GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1	A4GALT, ACR +91 more	Copy number loss	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 154688	GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3	LOC126863184, LOC126863185 +541 more	Copy number gain	See cases	GPathogenic
Select item 153178	GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3	LOC126863187, LOC126863188 +523 more	Copy number gain	See cases	GPathogenic
Select item 152914	GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1	ADM2, ALG12 +481 more	Copy number loss	See cases	GPathogenic
Select item 152340	GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1	ACR, ADM2 +451 more	Copy number loss	See cases	GPathogenic
Select item 148050	GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3	CIMAP1B, CPT1B +492 more	Copy number gain	See cases	GPathogenic
Select item 147775	GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1	A4GALT, ACR +580 more	Copy number loss	See cases	GPathogenic
Select item 147622	GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1	A4GALT, ALG12 +428 more	Copy number loss	See cases	GPathogenic
Select item 146895	GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3	ADM2, ALG12 +428 more	Copy number gain	See cases	GBenign
Select item 146215	GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4	LOC130067605, LOC130067606 +303 more	Copy number gain	See cases	GPathogenic
Select item 146121	GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1	ACR, ADM2 +434 more	Copy number loss	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067596, LOC130067597 +687 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59061	GRCh38/hg38 22q13.31(chr22:43841416-44192863)x3	LOC114004363, LOC121627950 +27 more	Copy number gain	See cases	GUncertain significance
Select item 57945	GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3	LOC126863187, LOC126863188 +495 more	Copy number gain	See cases	GPathogenic
Select item 57944	GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3	A4GALT, ADM2 +502 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 57670	GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1	ACR, ADM2 +441 more	Copy number loss	See cases	GPathogenic
Select item 57669	GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1	LOC130067640, LOC130067641 +483 more	Copy number loss	See cases	GPathogenic
Select item 57636	GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1	A4GALT, ACR +521 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 83