ZNG1A[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917492	NC_000009.12:g.1_190938del	FAM138C, FOXD4 +11 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 545373	NC_000009.12:g.(?_10000)_(400952_?)del	DOCK8, DOCK8-AS1 +20 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 2499644	GRCh38/hg38 9p24.3(chr9:46587-273160)	DOCK8, DOCK8-AS1 +13 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 157129	NM_207305.4(FOXD4):c.-155989_*70213dup	LOC110120718, LOC124210604 +13 more	Duplication	Normal pregnancy	Gnot provided
Select item 58437	GRCh38/hg38 9p24.3(chr9:52389-356138)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GUncertain significance
Select item 152051	GRCh38/hg38 9p24.3(chr9:62525-386070)x3	DOCK8, DOCK8-AS1 +16 more	Copy number gain	See cases	GLikely benign
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 3259919	NM_018491.5(ZNG1A):c.1129G>A (p.Val377Met)	ZNG1A (V294M +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2544561	NM_018491.5(ZNG1A):c.1067G>A (p.Arg356Gln)	ZNG1A (R273Q +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554482	NM_018491.5(ZNG1A):c.1037G>A (p.Ser346Asn)	ZNG1A (S263N +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199098	NM_018491.5(ZNG1A):c.1013A>G (p.Tyr338Cys)	ZNG1A (Y309C +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199097	NM_018491.5(ZNG1A):c.1012T>C (p.Tyr338His)	ZNG1A (Y190H +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529995	NM_018491.5(ZNG1A):c.1008G>C (p.Glu336Asp)	ZNG1A (E161D +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199121	NM_018491.5(ZNG1A):c.996G>C (p.Gln332His)	ZNG1A (Q157H +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2462544	NM_018491.5(ZNG1A):c.985G>A (p.Val329Met)	ZNG1A (V259M +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2520893	NM_018491.5(ZNG1A):c.964A>G (p.Ile322Val)	ZNG1A (I286V +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199120	NM_018491.5(ZNG1A):c.929G>A (p.Cys310Tyr)	ZNG1A (C187Y +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199119	NM_018491.5(ZNG1A):c.925C>T (p.His309Tyr)	ZNG1A (H186Y +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199118	NM_018491.5(ZNG1A):c.899A>G (p.Glu300Gly)	ZNG1A (E271G +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2673164	NM_018491.5(ZNG1A):c.885+6T>C	ZNG1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3199117	NM_018491.5(ZNG1A):c.866A>G (p.His289Arg)	ZNG1A (H234R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614666	NM_018491.5(ZNG1A):c.793G>A (p.Gly265Arg)	ZNG1A (G117R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199116	NM_018491.5(ZNG1A):c.782A>T (p.Gln261Leu)	ZNG1A (Q178L +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711111	NC_000009.12:g.139481_407477del	DOCK8, DOCK8-AS1 +9 more	Deletion	Combined immunodeficiency due to DOCK8 deficiency	GPathogenic
Select item 3259916	NM_018491.5(ZNG1A):c.758G>C (p.Gly253Ala)	ZNG1A (G217A +8 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 58447	GRCh38/hg38 9p24.3(chr9:146194-389294)x3	DOCK8, DOCK8-AS1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2550304	NM_018491.5(ZNG1A):c.653C>T (p.Thr218Met)	ZNG1A (T198M +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3199115	NM_018491.5(ZNG1A):c.635A>C (p.Asp212Ala)	ZNG1A (D37A +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199114	NM_018491.5(ZNG1A):c.634G>T (p.Asp212Tyr)	ZNG1A (D37Y +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526751	NM_018491.5(ZNG1A):c.607A>C (p.Asn203His)	ZNG1A (N80H +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199113	NM_018491.5(ZNG1A):c.601C>G (p.Leu201Val)	ZNG1A (L165V +6 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 768273	NM_018491.5(ZNG1A):c.576A>G (p.Arg192=)	ZNG1A	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3199111	NM_018491.5(ZNG1A):c.553G>T (p.Gly185Cys)	ZNG1A (G10C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516460	NM_018491.5(ZNG1A):c.533T>C (p.Leu178Ser)	ZNG1A (L142S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597444	NM_018491.5(ZNG1A):c.508G>C (p.Asp170His)	ZNG1A (D22H +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 144972	GRCh38/hg38 9p24.3(chr9:163131-271257)x3	DOCK8, DOCK8-AS1 +5 more	Copy number gain	See cases	GBenign
Select item 3199110	NM_018491.5(ZNG1A):c.461C>G (p.Ala154Gly)	ZNG1A (A6G +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3199109	NM_018491.5(ZNG1A):c.440C>G (p.Ala147Gly)	ZNG1A (A147G +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2614593	NM_018491.5(ZNG1A):c.400C>G (p.Leu134Val)	ZNG1A (L98V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3259917	NM_018491.5(ZNG1A):c.360T>G (p.Ile120Met)	ZNG1A (I120M +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2495218	NM_018491.5(ZNG1A):c.331T>G (p.Ser111Ala)	ZNG1A (S111A +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2547648	NM_018491.5(ZNG1A):c.328T>G (p.Cys110Gly)	ZNG1A (C74G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3199108	NM_018491.5(ZNG1A):c.319T>G (p.Cys107Gly)	ZNG1A (C107G +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3199107	NM_018491.5(ZNG1A):c.300G>C (p.Trp100Cys)	ZNG1A (W100C +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3199106	NM_018491.5(ZNG1A):c.266C>A (p.Ala89Asp)	ZNG1A (A53D +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3259920	NM_018491.5(ZNG1A):c.248C>A (p.Ala83Glu)	ZNG1A (A47E +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3199105	NM_018491.5(ZNG1A):c.230A>C (p.Glu77Ala)	ZNG1A (E77A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199103	NM_018491.5(ZNG1A):c.227A>G (p.Asn76Ser)	ZNG1A (N76S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199102	NM_018491.5(ZNG1A):c.220A>G (p.Ile74Val)	ZNG1A (I74V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3199101	NM_018491.5(ZNG1A):c.215C>T (p.Ala72Val)	ZNG1A (A36V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3259918	NM_018491.5(ZNG1A):c.211G>A (p.Val71Ile)	ZNG1A (V71I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3199100	NM_018491.5(ZNG1A):c.199C>T (p.His67Tyr)	ZNG1A (H31Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590630	NM_018491.5(ZNG1A):c.148T>C (p.Tyr50His)	ZNG1A (Y50H)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3199099	NM_018491.5(ZNG1A):c.141C>G (p.Ile47Met)	ZNG1A (I47M)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3199112	NM_018491.5(ZNG1A):c.56G>T (p.Cys19Phe)	ZNG1A (C19F)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2622578	NM_018491.5(ZNG1A):c.29A>G (p.Glu10Gly)	ZNG1A (E10G)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3199104	NM_018491.5(ZNG1A):c.22G>A (p.Ala8Thr)	ZNG1A (A8T)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394974	GRCh37/hg19 9p24.3(chr9:118241-213161)x1	DOCK8-AS1, FOXD4 +1 more	Copy number loss	See cases	GBenign
Select item 394851	GRCh37/hg19 9p24.3(chr9:118241-239426)x1	DOCK8, DOCK8-AS1 +2 more	Copy number loss	See cases	GLikely benign
Select item 394555	GRCh37/hg19 9p24.3(chr9:118241-166977)x1	FOXD4, ZNG1A	Copy number loss	See cases	GBenign/Likely benign
Select item 394554	GRCh37/hg19 9p24.3(chr9:118241-166977)x3	FOXD4, ZNG1A	Copy number gain	See cases	GBenign
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393883	GRCh37/hg19 9p24.3(chr9:156512-215717)x1	DOCK8, DOCK8-AS1 +1 more	Copy number loss	See cases	GLikely benign
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253580	GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1	AK3, BRD10 +40 more	Copy number loss	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 221834	GRCh37/hg19 9p24.3(chr9:46587-262191)x3	DOCK8-AS1, FOXD4 +2 more	Copy number gain	Premature ovarian failure	GBenign

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Items: 71