LOC101928295[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 2271578	NM_014419.4(DKKL1):c.438G>T (p.Lys146Asn)	DKKL1, LOC101928295 (K146N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272192	NM_014419.4(DKKL1):c.451C>T (p.Pro151Ser)	DKKL1, LOC101928295 (P76S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780579	NM_014419.4(DKKL1):c.497G>A (p.Arg166Gln)	DKKL1, LOC101928295 (R166Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2612484	NM_014419.4(DKKL1):c.506T>C (p.Phe169Ser)	DKKL1, LOC101928295 (F138S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553346	NM_014419.4(DKKL1):c.529C>T (p.Arg177Trp)	DKKL1, LOC101928295 (R177W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313971	NM_014419.4(DKKL1):c.587G>A (p.Arg196His)	DKKL1, LOC101928295 (R165H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082655	NM_014419.4(DKKL1):c.614G>A (p.Arg205His)	DKKL1, LOC101928295 (R205H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548759	NM_014419.4(DKKL1):c.616A>G (p.Lys206Glu)	DKKL1, LOC101928295 (K175E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3272193	NM_014419.4(DKKL1):c.629A>G (p.Lys210Arg)	DKKL1, LOC101928295 (K210R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407411	NM_014419.4(DKKL1):c.646G>T (p.Gly216Trp)	DKKL1, LOC101928295 (G216W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272191	NM_014419.4(DKKL1):c.668C>G (p.Ser223Cys)	DKKL1, LOC101928295 (S223C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209876	NM_014419.4(DKKL1):c.694T>G (p.Leu232Val)	DKKL1, LOC101928295 (L201V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778852	NM_014419.4(DKKL1):c.719G>A (p.Arg240Gln)	DKKL1, LOC101928295 (R165Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign