374879[geneid] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ACTL9, ADAMTS10 +132 more	Duplication	Autism	GLikely pathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 3197801	NM_198535.3(ZNF699):c.1898A>C (p.His633Pro)	ZNF699 (H633P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501019	NM_198535.3(ZNF699):c.1891C>T (p.Arg631Ter)	ZNF699 (R631*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2222332	NM_198535.3(ZNF699):c.1705C>T (p.Arg569Cys)	ZNF699 (R569C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328612	NM_198535.3(ZNF699):c.1679A>C (p.Glu560Ala)	ZNF699 (E560A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363273	NM_198535.3(ZNF699):c.1655C>T (p.Thr552Met)	ZNF699 (T552M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197800	NM_198535.3(ZNF699):c.1642A>C (p.Ile548Leu)	ZNF699 (I548L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1205836	NM_198535.3(ZNF699):c.1623_1626del (p.Tyr542fs)	ZNF699 (Y542fs)	Microsatellite (frameshift variant)	DEGCAGS syndrome	GLikely benign
Select item 2505220	NM_198535.3(ZNF699):c.1534T>C (p.Phe512Leu)	ZNF699 (F512L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2551434	NM_198535.3(ZNF699):c.1505C>T (p.Pro502Leu)	ZNF699 (P502L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1678097	NM_198535.3(ZNF699):c.1379C>T (p.Ser460Leu)	ZNF699 (S460L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2505221	NM_198535.3(ZNF699):c.1328G>A (p.Arg443Gln)	ZNF699 (R443Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205837	NM_198535.3(ZNF699):c.1324dup (p.Ser442fs)	ZNF699 (S442fs)	Duplication (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 2584361	NM_198535.3(ZNF699):c.1310_1311del (p.His437fs)	ZNF699 (H437fs)	Deletion (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 2517801	NM_198535.3(ZNF699):c.1253C>T (p.Pro418Leu)	ZNF699 (P418L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245097	NM_198535.3(ZNF699):c.1228A>G (p.Met410Val)	ZNF699 (M410V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300215	NM_198535.3(ZNF699):c.1180A>G (p.Lys394Glu)	ZNF699 (K394E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241098	NM_198535.3(ZNF699):c.1177T>C (p.Cys393Arg)	ZNF699 (C393R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197799	NM_198535.3(ZNF699):c.1142A>G (p.His381Arg)	ZNF699 (H381R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632595	NM_198535.3(ZNF699):c.1100_1101del (p.Glu367fs)	ZNF699 (E367fs)	Microsatellite (frameshift variant)	ZNF699-related condition	GLikely pathogenic
Select item 1878609	NM_198535.3(ZNF699):c.1058A>T (p.His353Leu)	ZNF699 (H353L)	Single nucleotide variant (missense variant)	DEGCAGS syndrome	GUncertain significance
Select item 2484166	NM_198535.3(ZNF699):c.905G>A (p.Ser302Asn)	ZNF699 (S302N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274171	NM_198535.3(ZNF699):c.884C>T (p.Thr295Ile)	ZNF699 (T295I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515704	NM_198535.3(ZNF699):c.878C>T (p.Ser293Leu)	ZNF699 (S293L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197807	NM_198535.3(ZNF699):c.802G>A (p.Ala268Thr)	ZNF699 (A268T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247003	NM_198535.3(ZNF699):c.779T>G (p.Phe260Cys)	ZNF699 (F260C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197806	NM_198535.3(ZNF699):c.664C>A (p.Pro222Thr)	ZNF699 (P222T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197805	NM_198535.3(ZNF699):c.613G>A (p.Val205Met)	ZNF699 (V205M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400015	NM_198535.3(ZNF699):c.569C>T (p.Thr190Ile)	ZNF699 (T190I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1205835	NM_198535.3(ZNF699):c.436_439del (p.Asp146fs)	ZNF699 (D146fs)	Deletion (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 2208482	NM_198535.3(ZNF699):c.425C>A (p.Ser142Tyr)	ZNF699 (S142Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2319125	NM_198535.3(ZNF699):c.404G>A (p.Ser135Asn)	ZNF699 (S135N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1205838	NM_198535.3(ZNF699):c.349dup (p.Ile117fs)	ZNF699 (I117fs)	Duplication (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 3197804	NM_198535.3(ZNF699):c.266T>G (p.Phe89Cys)	ZNF699 (F89C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3197802	NM_198535.3(ZNF699):c.193C>T (p.Pro65Ser)	ZNF699 (P65S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249396	NM_198535.3(ZNF699):c.182C>T (p.Pro61Leu)	ZNF699 (P61L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 986384	NM_198535.3(ZNF699):c.175+1G>A	ZNF699	Single nucleotide variant (splice donor variant)	Diamond-Blackfan anemia	GUncertain significance
Select item 1708057	NM_198535.3(ZNF699):c.159_166delinsTTCTTA (p.Gln53fs)	ZNF699 (Q53fs)	Indel (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 2505255	NM_198535.3(ZNF699):c.144G>A (p.Met48Ile)	ZNF699 (M48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205839	NM_198535.3(ZNF699):c.51_54del (p.Asp17fs)	ZNF699 (D17fs)	Deletion (frameshift variant)	DEGCAGS syndrome	GPathogenic
Select item 2466227	NM_198535.3(ZNF699):c.51C>G (p.Asp17Glu)	ZNF699 (D17E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3197803	NM_198535.3(ZNF699):c.20C>T (p.Thr7Ile)	ZNF699 (T7I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1526142	NM_198535.3(ZNF699):c.2T>A (p.Met1Lys)	ZNF699 (M1K)	Single nucleotide variant (missense variant +1 more)	DEGCAGS syndrome	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 980195	GRCh37/hg19 19p13.2(chr19:9245167-9465565)x3	ZNF559-ZNF177, OR7D4 +5 more	Copy number gain	not provided	GLikely benign
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221349	Single allele	COL5A3, FBXL12 +23 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 52