zkscan3[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	LOC129995913, LOC129995914 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	LOC129996111, LOC129996112 +344 more	Copy number gain	See cases	GUncertain significance
Select item 2313311	NM_024493.4(ZKSCAN3):c.97G>T (p.Gly33Cys)	ZKSCAN3 (G33C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246241	NM_024493.4(ZKSCAN3):c.167A>G (p.Glu56Gly)	ZKSCAN3 (E56G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225471	NM_024493.4(ZKSCAN3):c.236T>G (p.Met79Arg)	ZKSCAN3 (M79R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2623835	NM_024493.4(ZKSCAN3):c.340G>T (p.Gly114Trp)	ZKSCAN3 (G114W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299165	NM_024493.4(ZKSCAN3):c.449C>T (p.Ala150Val)	ZKSCAN3 (A150V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459190	NM_024493.4(ZKSCAN3):c.665C>T (p.Thr222Ile)	ZKSCAN3 (T222I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618883	NM_024493.4(ZKSCAN3):c.704G>T (p.Gly235Val)	ZKSCAN3 (G235V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2312133	NM_024493.4(ZKSCAN3):c.790C>T (p.Pro264Ser)	ZKSCAN3 (P116S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303017	NM_024493.4(ZKSCAN3):c.971C>T (p.Ala324Val)	ZKSCAN3 (A324V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488616	NM_024493.4(ZKSCAN3):c.1022C>T (p.Pro341Leu)	ZKSCAN3 (P193L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050269	NM_024493.4(ZKSCAN3):c.1038G>T (p.Glu346Asp)	ZKSCAN3 (E198D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2329795	NM_024493.4(ZKSCAN3):c.1052T>C (p.Phe351Ser)	ZKSCAN3 (F351S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323136	NM_024493.4(ZKSCAN3):c.1069C>T (p.Leu357Phe)	ZKSCAN3 (L357F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343320	NM_024493.4(ZKSCAN3):c.1079A>G (p.His360Arg)	ZKSCAN3 (H212R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527705	NM_024493.4(ZKSCAN3):c.1178C>A (p.Thr393Asn)	ZKSCAN3 (T245N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299924	NM_024493.4(ZKSCAN3):c.1558A>G (p.Ile520Val)	ZKSCAN3 (I372V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685200	GRCh37/hg19 6p22.1(chr6:28296650-28369127)x1	ZKSCAN3, ZSCAN12 +1 more	Copy number loss	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 23