ClinVar for Gene (Select 7745) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3193700	NM_006298.4(ZKSCAN8):c.871G>A (p.Gly291Arg)	ZKSCAN8 (G291R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193699	NM_006298.4(ZKSCAN8):c.695A>C (p.Glu232Ala)	ZKSCAN8 (E45A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193698	NM_006298.4(ZKSCAN8):c.430G>C (p.Val144Leu)	ZKSCAN8 (V144L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193697	NM_006298.4(ZKSCAN8):c.404T>C (p.Ile135Thr)	ZKSCAN8 (I135T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193696	NM_006298.4(ZKSCAN8):c.1447A>G (p.Ser483Gly)	ZKSCAN8 (S483G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193695	NM_006298.4(ZKSCAN8):c.1226A>G (p.Asn409Ser)	ZKSCAN8 (N409S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193693	NM_006298.4(ZKSCAN8):c.1211A>G (p.Lys404Arg)	ZKSCAN8 (K404R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3193692	NM_006298.4(ZKSCAN8):c.1196T>G (p.Ile399Ser)	ZKSCAN8 (I399S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606341	NM_006298.4(ZKSCAN8):c.215T>C (p.Leu72Pro)	ZKSCAN8 (L72P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569995	NM_006298.4(ZKSCAN8):c.1420A>G (p.Ser474Gly)	ZKSCAN8 (S287G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569907	NM_006298.4(ZKSCAN8):c.1191G>T (p.Gln397His)	ZKSCAN8 (Q210H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550317	NM_006298.4(ZKSCAN8):c.355G>A (p.Gly119Arg)	ZKSCAN8 (G119R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549581	NM_006298.4(ZKSCAN8):c.1363A>G (p.Ile455Val)	ZKSCAN8 (I268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541421	NM_006298.4(ZKSCAN8):c.172C>G (p.Arg58Gly)	ZKSCAN8 (R58G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526997	NM_006298.4(ZKSCAN8):c.1073C>A (p.Ala358Asp)	ZKSCAN8 (A171D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517057	NM_006298.4(ZKSCAN8):c.40C>T (p.Pro14Ser)	ZKSCAN8 (P14S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512186	NM_006298.4(ZKSCAN8):c.938G>A (p.Arg313Gln)	ZKSCAN8 (R313Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486800	NM_006298.4(ZKSCAN8):c.1720G>A (p.Glu574Lys)	ZKSCAN8 (E387K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476965	NM_006298.4(ZKSCAN8):c.1429C>G (p.Leu477Val)	ZKSCAN8 (L290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408934	NM_006298.4(ZKSCAN8):c.125G>A (p.Ser42Asn)	ZKSCAN8 (S42N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2408547	NM_006298.4(ZKSCAN8):c.152G>A (p.Arg51His)	ZKSCAN8 (R51H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388359	NM_006298.4(ZKSCAN8):c.1120A>C (p.Lys374Gln)	ZKSCAN8 (K187Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362486	NM_006298.4(ZKSCAN8):c.430G>A (p.Val144Ile)	ZKSCAN8 (V144I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349131	NM_006298.4(ZKSCAN8):c.1583A>G (p.Asn528Ser)	ZKSCAN8 (N341S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317948	NM_006298.4(ZKSCAN8):c.358G>C (p.Glu120Gln)	ZKSCAN8 (E120Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308856	NM_006298.4(ZKSCAN8):c.1678A>G (p.Ser560Gly)	ZKSCAN8 (S560G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294921	NM_006298.4(ZKSCAN8):c.1670A>G (p.Gln557Arg)	ZKSCAN8 (Q370R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265006	NM_006298.4(ZKSCAN8):c.1561A>G (p.Lys521Glu)	ZKSCAN8 (K334E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257299	NM_006298.4(ZKSCAN8):c.1138T>C (p.Cys380Arg)	ZKSCAN8 (C193R +1 more)	Single nucleotide variant (missense variant)	not specified	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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 35