ZWILCH[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 2569031	NM_017975.5(ZWILCH):c.34T>A (p.Phe12Ile)	ZWILCH (F12I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 785497	NM_017975.5(ZWILCH):c.49C>T (p.Leu17Phe)	ZWILCH (L17F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2236772	NM_017975.5(ZWILCH):c.142C>A (p.Pro48Thr)	ZWILCH (P48T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3199639	NM_017975.5(ZWILCH):c.316G>T (p.Ala106Ser)	ZWILCH (A106S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2465075	NM_017975.5(ZWILCH):c.406C>T (p.Leu136Phe)	ZWILCH (L136F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645474	NM_017975.5(ZWILCH):c.473C>G (p.Thr158Arg)	ZWILCH (T158R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2316601	NM_017975.5(ZWILCH):c.503A>G (p.Tyr168Cys)	ZWILCH (Y168C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645475	NM_017975.5(ZWILCH):c.555A>G (p.Leu185=)	ZWILCH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3199640	NM_017975.5(ZWILCH):c.580C>T (p.His194Tyr)	ZWILCH (H80Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771475	NM_017975.5(ZWILCH):c.592-9T>G	ZWILCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3199641	NM_017975.5(ZWILCH):c.689C>A (p.Ser230Tyr)	ZWILCH (S230Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261750	NM_017975.5(ZWILCH):c.760G>A (p.Glu254Lys)	ZWILCH (E254K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261965	NM_017975.5(ZWILCH):c.838A>G (p.Arg280Gly)	ZWILCH (R166G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209251	NM_017975.5(ZWILCH):c.956A>G (p.Asp319Gly)	ZWILCH (D205G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474305	NM_017975.5(ZWILCH):c.997G>T (p.Asp333Tyr)	ZWILCH (D219Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474933	NM_017975.5(ZWILCH):c.1001G>A (p.Arg334His)	ZWILCH (R220H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546203	NM_017975.5(ZWILCH):c.1004C>T (p.Ser335Phe)	ZWILCH (S221F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495684	NM_017975.5(ZWILCH):c.1004C>A (p.Ser335Tyr)	ZWILCH (S221Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544365	NM_017975.5(ZWILCH):c.1012C>T (p.Arg338Cys)	ZWILCH (R338C +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272400	NM_017975.5(ZWILCH):c.1028G>T (p.Arg343Leu)	ZWILCH (R229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199634	NM_017975.5(ZWILCH):c.1112C>T (p.Thr371Ile)	ZWILCH (T257I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299834	NM_017975.5(ZWILCH):c.1136G>A (p.Arg379His)	ZWILCH (R379H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610618	NM_017975.5(ZWILCH):c.1175G>A (p.Ser392Asn)	ZWILCH (S278N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262425	NM_017975.5(ZWILCH):c.1238G>T (p.Gly413Val)	ZWILCH (G299V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199636	NM_017975.5(ZWILCH):c.1243A>G (p.Ile415Val)	ZWILCH (I301V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2286769	NM_017975.5(ZWILCH):c.1358C>T (p.Pro453Leu)	ZWILCH (P339L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313717	NM_017975.5(ZWILCH):c.1443T>G (p.Ile481Met)	ZWILCH (I481M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199637	NM_017975.5(ZWILCH):c.1511T>C (p.Leu504Pro)	ZWILCH (L390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354600	NM_017975.5(ZWILCH):c.1585C>G (p.Gln529Glu)	ZWILCH (Q415E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321165	NM_017975.5(ZWILCH):c.1597G>A (p.Val533Met)	ZWILCH (V533M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520626	NM_017975.5(ZWILCH):c.1657C>G (p.Pro553Ala)	ZWILCH (P553A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778494	NM_017975.5(ZWILCH):c.1688-7A>G	ZWILCH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2315356	NM_017975.5(ZWILCH):c.1705C>G (p.Leu569Val)	ZWILCH (L455V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118187	NM_207338.4(LCTL):c.1619C>T (p.Thr540Met)	LCTL, ZWILCH (T279M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461362	NM_207338.4(LCTL):c.1618A>G (p.Thr540Ala)	LCTL, ZWILCH (T540A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285734	NM_207338.4(LCTL):c.1608G>A (p.Met536Ile)	LCTL, ZWILCH (M363I +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1512687	NC_000015.9:g.(?_66161924)_(69018313_?)dup	CLN6, CORO2B +21 more	Duplication	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ARPIN-AP3S2, COMMD4 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 590960	GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)	LCTL, SMAD3 +2 more	Copy number loss	Aortic valve disease 1	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 47