ClinVar for Gene (Select 7745) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3334782	NM_006298.4(ZKSCAN8):c.666T>G (p.Ile222Met)	ZKSCAN8 (I222M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334781	NM_006298.4(ZKSCAN8):c.1207G>A (p.Glu403Lys)	ZKSCAN8 (E403K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334780	NM_006298.4(ZKSCAN8):c.587G>A (p.Arg196His)	ZKSCAN8 (R196H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3334779	NM_006298.4(ZKSCAN8):c.461T>A (p.Val154Glu)	ZKSCAN8 (V154E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334778	NM_006298.4(ZKSCAN8):c.217C>T (p.Arg73Trp)	ZKSCAN8 (R73W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40