ZNF556[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 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 2557226	NM_024967.3(ZNF556):c.59T>C (p.Leu20Ser)	ZNF556 (L20S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620203	NM_024967.3(ZNF556):c.80A>G (p.Lys27Arg)	ZNF556 (K27R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250989	NM_024967.3(ZNF556):c.117C>G (p.His39Gln)	ZNF556 (H39Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2399623	NM_024967.3(ZNF556):c.163A>C (p.Ile55Leu)	ZNF556 (I55L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528327	NM_024967.3(ZNF556):c.365G>A (p.Arg122His)	ZNF556 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343009	NM_024967.3(ZNF556):c.400C>T (p.Arg134Cys)	ZNF556 (R133C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293843	NM_024967.3(ZNF556):c.563C>T (p.Ser188Phe)	ZNF556 (S188F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485758	NM_024967.3(ZNF556):c.608A>G (p.Tyr203Cys)	ZNF556 (Y202C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356370	NM_024967.3(ZNF556):c.625G>A (p.Gly209Arg)	ZNF556 (G208R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388973	NM_024967.3(ZNF556):c.740G>A (p.Arg247His)	ZNF556 (R246H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459894	NM_024967.3(ZNF556):c.857C>A (p.Pro286Gln)	ZNF556 (P285Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391577	NM_024967.3(ZNF556):c.872A>T (p.Gln291Leu)	ZNF556 (Q290L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359749	NM_024967.3(ZNF556):c.944A>G (p.Tyr315Cys)	ZNF556 (Y315C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384287	NM_024967.3(ZNF556):c.967G>C (p.Ala323Pro)	ZNF556 (A322P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597860	NM_024967.3(ZNF556):c.1001C>T (p.Ala334Val)	ZNF556 (A333V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2366639	NM_024967.3(ZNF556):c.1042G>A (p.Val348Met)	ZNF556 (V347M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2648978	NM_024967.3(ZNF556):c.1059G>A (p.Ala353=)	ZNF556	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2387528	NM_024967.3(ZNF556):c.1067G>A (p.Arg356His)	ZNF556 (R355H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2292425	NM_024967.3(ZNF556):c.1184A>T (p.Glu395Val)	ZNF556 (E394V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363568	NM_024967.3(ZNF556):c.1225G>A (p.Gly409Arg)	ZNF556 (G408R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545865	NM_024967.3(ZNF556):c.1292G>A (p.Gly431Glu)	ZNF556 (G430E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2512187	NM_024967.3(ZNF556):c.1355C>T (p.Ser452Phe)	ZNF556 (S451F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	TCF3, PLK5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	ABCA7, ABHD17A +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance
Select item 929386	GRCh37/hg19 19p13.3(chr19:2273150-2897133)x3	DIRAS1, GADD45B +15 more	Copy number gain	See cases	GUncertain significance
Select item 816518	GRCh37/hg19 19p13.3(chr19:260912-4384674)x3	ABCA7, ABHD17A +138 more	Copy number gain	See cases	GPathogenic
Select item 816059	GRCh37/hg19 19p13.3(chr19:260911-3501271)x3	ABCA7, ABHD17A +106 more	Copy number gain	not provided	GPathogenic
Select item 688246	GRCh37/hg19 19p13.3(chr19:2389731-2925532)x1	DIRAS1, GADD45B +10 more	Copy number loss	not provided	GUncertain significance
Select item 686280	GRCh37/hg19 19p13.3(chr19:260911-4788357)x3	ABCA7, ABHD17A +147 more	Copy number gain	not provided	GPathogenic
Select item 635917	NC_000019.9:g.1406030_3597207dup	ABHD17A, ADAMTSL5 +64 more	Duplication	Neurodevelopmental disorder	GUncertain significance
Select item 635915	Single allele	SMIM24, SPPL2B +50 more	Deletion	Internal malformations	GUncertain significance
Select item 564605	GRCh37/hg19 19p13.3(chr19:260911-3200875)x3	ABCA7, ABHD17A +102 more	Copy number gain	not provided	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
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

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Items: 43