ClinVar for Gene (Select 29780) - ClinVar

Links from Gene

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3304424	NM_013327.5(PARVB):c.641A>G (p.Glu214Gly)	PARVB (E162G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304423	NM_013327.5(PARVB):c.904C>G (p.Leu302Val)	PARVB (L335V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304422	NM_013327.5(PARVB):c.628G>A (p.Val210Met)	PARVB (V158M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304420	NM_013327.5(PARVB):c.502C>T (p.Arg168Trp)	PARVB (R201W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208862	NM_013327.5(PARVB):c.743A>G (p.His248Arg)	PARVB (H248R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208861	NM_013327.5(PARVB):c.726C>G (p.Phe242Leu)	PARVB (F205L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208860	NM_013327.5(PARVB):c.637C>T (p.Arg213Trp)	PARVB (R176W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208859	NM_013327.5(PARVB):c.424G>A (p.Glu142Lys)	PARVB (E142K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208858	NM_013327.5(PARVB):c.407C>T (p.Ala136Val)	PARVB (A136V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208857	NM_013327.5(PARVB):c.961T>A (p.Phe321Ile)	PARVB (F246I +3 more)	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 2653274	NM_013327.5(PARVB):c.984C>T (p.Asp328=)	PARVB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589701	NM_013327.5(PARVB):c.584C>T (p.Ala195Val)	PARVB (A158V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570559	NM_013327.5(PARVB):c.511G>A (p.Val171Met)	PARVB (V134M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531752	NM_013327.5(PARVB):c.836A>T (p.Glu279Val)	PARVB (E279V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527899	NM_013327.5(PARVB):c.761G>C (p.Ser254Thr)	PARVB (S287T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517635	NM_013327.5(PARVB):c.856G>A (p.Val286Met)	PARVB (V211M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509218	NM_013327.5(PARVB):c.964G>A (p.Ala322Thr)	PARVB (A285T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495261	NM_013327.5(PARVB):c.976A>T (p.Met326Leu)	PARVB (M289L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474973	NM_013327.5(PARVB):c.284A>G (p.Asp95Gly)	PARVB (D95G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407408	NM_013327.5(PARVB):c.991C>T (p.Leu331Phe)	PARVB (L364F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386527	NM_013327.5(PARVB):c.707G>A (p.Arg236Gln)	PARVB (R199Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379285	NM_013327.5(PARVB):c.806A>G (p.Asn269Ser)	PARVB (N302S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368545	NM_013327.5(PARVB):c.877G>A (p.Gly293Ser)	PARVB (G218S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366556	NM_013327.5(PARVB):c.365A>G (p.Gln122Arg)	PARVB (Q122R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341794	NM_013327.5(PARVB):c.827C>T (p.Thr276Met)	PARVB (T276M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338900	NM_013327.5(PARVB):c.158T>C (p.Met53Thr)	PARVB (M16T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321809	NM_013327.5(PARVB):c.807C>G (p.Asn269Lys)	PARVB (N302K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305320	NM_013327.5(PARVB):c.773A>G (p.Lys258Arg)	PARVB (K206R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267240	NM_013327.5(PARVB):c.330G>T (p.Gln110His)	PARVB (Q143H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251073	NM_001003828.3(PARVB):c.157C>T (p.Leu53Phe)	PARVB (L53F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246948	NM_001003828.3(PARVB):c.148G>T (p.Gly50Cys)	PARVB (G50C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235397	NM_013327.5(PARVB):c.120C>A (p.Asp40Glu)	PARVB (D73E +2 more)	Single nucleotide variant (missense variant +1 more)	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 1526742	GRCh37/hg19 22q13.31(chr22:44367095-44538688)	PARVB, SAMM50	Copy number loss	not specified	GUncertain significance
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	A4GALT, ACR +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	DENND6B, EFCAB6 +443 more	Deletion	Phelan-McDermid syndrome	GPathogenic
Select item 976862	NC_000022.11:g.43032129_50739836del	CRELD2, DENND6B +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 783893	NM_013327.5(PARVB):c.844-10_844-9insG	PARVB	Insertion (intron variant)	not provided	GBenign
Select item 777734	NM_013327.5(PARVB):c.1044C>T (p.Ser348=)	PARVB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777733	NM_013327.5(PARVB):c.155C>G (p.Pro52Arg)	PARVB (P52R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 718697	NM_013327.5(PARVB):c.1086C>T (p.Asn362=)	PARVB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711251	NM_013327.5(PARVB):c.738C>T (p.Phe246=)	PARVB	Single nucleotide variant (synonymous variant)	not provided	GBenign
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)	A4GALT, ACR +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 564975	GRCh37/hg19 22q13.31(chr22:44465713-44541738)x1	PARVB	Copy number loss	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 152146	GRCh38/hg38 22q13.31(chr22:44031975-44060578)x3	LOC130067650, PARVB	Copy number gain	See cases	GLikely benign
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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Germline classification

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Links from Gene

Items: 98