ClinVar for Gene (Select 27120) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3082654	NM_014419.4(DKKL1):c.389C>T (p.Ala130Val)	DKKL1 (A130V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3082653	NM_014419.4(DKKL1):c.299T>A (p.Leu100His)	DKKL1 (L100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082652	NM_014419.4(DKKL1):c.170G>T (p.Arg57Leu)	DKKL1 (R57L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
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 2601139	NM_014419.4(DKKL1):c.65C>T (p.Ser22Phe)	DKKL1 (S22F)	Single nucleotide variant (missense variant +1 more)	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 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 2531086	NM_014419.4(DKKL1):c.217T>G (p.Ser73Ala)	DKKL1 (S73A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507929	NM_014419.4(DKKL1):c.294C>A (p.Asn98Lys)	DKKL1 (N23K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494652	NM_014419.4(DKKL1):c.401T>C (p.Phe134Ser)	DKKL1 (F59S +1 more)	Single nucleotide variant (missense variant +1 more)	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 2365312	NM_014419.4(DKKL1):c.374C>A (p.Ala125Glu)	DKKL1 (A125E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325730	NM_014419.4(DKKL1):c.344G>A (p.Gly115Glu)	DKKL1 (G115E +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 2252102	NM_014419.4(DKKL1):c.207C>G (p.Asp69Glu)	DKKL1 (D69E)	Single nucleotide variant (missense variant +1 more)	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 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	PTOV1-AS2, SLC17A7 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 1291174	NM_014419.4(DKKL1):c.326T>G (p.Met109Arg)	DKKL1 (M109R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
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 778852	NM_014419.4(DKKL1):c.719G>A (p.Arg240Gln)	DKKL1, LOC101928295 (R165Q +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 564587	GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3	TRPM4, CD37 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33