ClinVar for Gene (Select 222698) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606366	NM_001007531.3(NKAPL):c.1148A>G (p.Lys383Arg)	NKAPL (K383R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593000	NM_001007531.3(NKAPL):c.290A>G (p.His97Arg)	NKAPL (H97R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548196	NM_001007531.3(NKAPL):c.1021A>C (p.Met341Leu)	NKAPL (M341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482705	NM_001007531.3(NKAPL):c.310G>A (p.Glu104Lys)	NKAPL (E104K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461670	NM_001007531.3(NKAPL):c.661A>G (p.Lys221Glu)	NKAPL (K221E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393932	NM_001007531.3(NKAPL):c.712A>G (p.Lys238Glu)	NKAPL (K238E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393931	NM_001007531.3(NKAPL):c.19T>A (p.Ser7Thr)	NKAPL (S7T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353821	NM_001007531.3(NKAPL):c.721A>G (p.Asn241Asp)	NKAPL (N241D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317642	NM_001007531.3(NKAPL):c.994G>C (p.Gly332Arg)	NKAPL (G332R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270957	NM_001007531.3(NKAPL):c.713A>C (p.Lys238Thr)	NKAPL (K238T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263149	NM_001007531.3(NKAPL):c.128C>T (p.Ser43Phe)	NKAPL (S43F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260761	NM_001007531.3(NKAPL):c.1178A>T (p.His393Leu)	NKAPL (H393L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249477	NM_001007531.3(NKAPL):c.202C>T (p.Arg68Cys)	NKAPL (R68C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239846	NM_001007531.3(NKAPL):c.611G>A (p.Ser204Asn)	NKAPL (S204N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217585	NM_001007531.3(NKAPL):c.534G>C (p.Lys178Asn)	NKAPL (K178N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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
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

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Links from Gene

Items: 25