ZNRF4[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
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 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 3199193	NM_181710.4(ZNRF4):c.17C>T (p.Pro6Leu)	ZNRF4 (P6L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313355	NM_181710.4(ZNRF4):c.35G>C (p.Arg12Thr)	ZNRF4 (R12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353624	NM_181710.4(ZNRF4):c.121C>T (p.Pro41Ser)	ZNRF4 (P41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199192	NM_181710.4(ZNRF4):c.136C>T (p.Arg46Trp)	ZNRF4 (R46W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252859	NM_181710.4(ZNRF4):c.202C>T (p.Arg68Trp)	ZNRF4 (R68W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588336	NM_181710.4(ZNRF4):c.241G>A (p.Val81Met)	ZNRF4 (V81M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239503	NM_181710.4(ZNRF4):c.302G>A (p.Arg101Gln)	ZNRF4 (R101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199194	NM_181710.4(ZNRF4):c.307G>A (p.Val103Met)	ZNRF4 (V103M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380912	NM_181710.4(ZNRF4):c.316G>A (p.Asp106Asn)	ZNRF4 (D106N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460452	NM_181710.4(ZNRF4):c.338T>C (p.Phe113Ser)	ZNRF4 (F113S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199195	NM_181710.4(ZNRF4):c.350C>T (p.Pro117Leu)	ZNRF4 (P117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199196	NM_181710.4(ZNRF4):c.402G>A (p.Met134Ile)	ZNRF4 (M134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199197	NM_181710.4(ZNRF4):c.436G>A (p.Glu146Lys)	ZNRF4 (E146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199198	NM_181710.4(ZNRF4):c.437A>G (p.Glu146Gly)	ZNRF4 (E146G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389566	NM_181710.4(ZNRF4):c.457C>T (p.Arg153Cys)	ZNRF4 (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352404	NM_181710.4(ZNRF4):c.493G>A (p.Asp165Asn)	ZNRF4 (D165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404493	NM_181710.4(ZNRF4):c.523G>A (p.Ala175Thr)	ZNRF4 (A175T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496105	NM_181710.4(ZNRF4):c.541G>A (p.Glu181Lys)	ZNRF4 (E181K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360214	NM_181710.4(ZNRF4):c.571G>A (p.Asp191Asn)	ZNRF4 (D191N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522879	NM_181710.4(ZNRF4):c.588G>C (p.Met196Ile)	ZNRF4 (M196I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199199	NM_181710.4(ZNRF4):c.631T>G (p.Ser211Ala)	ZNRF4 (S211A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525743	NM_181710.4(ZNRF4):c.653C>T (p.Ala218Val)	ZNRF4 (A218V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199200	NM_181710.4(ZNRF4):c.689A>T (p.Lys230Met)	ZNRF4 (K230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220970	NM_181710.4(ZNRF4):c.692C>T (p.Ser231Leu)	ZNRF4 (S231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381958	NM_181710.4(ZNRF4):c.701C>T (p.Ala234Val)	ZNRF4 (A234V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289146	NM_181710.4(ZNRF4):c.720C>A (p.Asp240Glu)	ZNRF4 (D240E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331250	NM_181710.4(ZNRF4):c.739G>T (p.Gly247Cys)	ZNRF4 (G247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219883	NM_181710.4(ZNRF4):c.760G>A (p.Val254Met)	ZNRF4 (V254M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337849	NM_181710.4(ZNRF4):c.787G>A (p.Ala263Thr)	ZNRF4 (A263T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490357	NM_181710.4(ZNRF4):c.802G>T (p.Ala268Ser)	ZNRF4 (A268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199201	NM_181710.4(ZNRF4):c.838C>G (p.Gln280Glu)	ZNRF4 (Q280E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465805	NM_181710.4(ZNRF4):c.859C>T (p.Arg287Trp)	ZNRF4 (R287W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527260	NM_181710.4(ZNRF4):c.949G>A (p.Glu317Lys)	ZNRF4 (E317K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551906	NM_181710.4(ZNRF4):c.997T>G (p.Cys333Gly)	ZNRF4 (C333G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206822	NM_181710.4(ZNRF4):c.1048G>A (p.Val350Met)	ZNRF4 (V350M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199191	NM_181710.4(ZNRF4):c.1058A>G (p.Gln353Arg)	ZNRF4 (Q353R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248223	NM_181710.4(ZNRF4):c.1106T>C (p.Phe369Ser)	ZNRF4 (F369S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550158	NM_181710.4(ZNRF4):c.1142C>A (p.Pro381His)	ZNRF4 (P381H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218233	NM_181710.4(ZNRF4):c.1171C>T (p.Arg391Cys)	ZNRF4 (R391C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 816061	GRCh37/hg19 19p13.3(chr19:5310645-5515780)x3	PTPRS, ZNRF4	Copy number gain	not provided	GUncertain significance
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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 48