Related gene-specific medical variations for Gene (Select 147700) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3389784	NM_177417.3(KLC3):c.1336C>T (p.Leu446=)	ERCC2, KLC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3288795	NM_177417.3(KLC3):c.331C>G (p.Arg111Gly)	KLC3, LOC125371530 (R111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288794	NM_177417.3(KLC3):c.1303A>G (p.Ile435Val)	ERCC2, KLC3 (I435V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3288793	NM_177417.3(KLC3):c.1393A>C (p.Met465Leu)	ERCC2, KLC3 (M465L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3250794	NM_177417.3(KLC3):c.1362G>A (p.Ala454=)	ERCC2, KLC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3115233	NM_177417.3(KLC3):c.476C>T (p.Pro159Leu)	KLC3, LOC125371530 (P159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115229	NM_177417.3(KLC3):c.1510C>T (p.His504Tyr)	ERCC2, KLC3 (H504Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115228	NM_177417.3(KLC3):c.1475G>A (p.Arg492Gln)	ERCC2, KLC3 (R492Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115227	NM_177417.3(KLC3):c.1414G>A (p.Val472Met)	ERCC2, KLC3 (V472M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115226	NM_177417.3(KLC3):c.1370G>A (p.Gly457Glu)	ERCC2, KLC3 (G457E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115225	NM_177417.3(KLC3):c.1364C>T (p.Ala455Val)	ERCC2, KLC3 (A455V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115224	NM_177417.3(KLC3):c.1352G>C (p.Arg451Pro)	ERCC2, KLC3 (R451P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115223	NM_177417.3(KLC3):c.1280G>A (p.Arg427His)	ERCC2, KLC3 (R427H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115222	NM_177417.3(KLC3):c.1279C>T (p.Arg427Cys)	ERCC2, KLC3 (R427C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650099	NM_177417.3(KLC3):c.1485C>T (p.Ser495=)	ERCC2, KLC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2616121	NM_177417.3(KLC3):c.1164G>C (p.Gln388His)	ERCC2, KLC3 (Q388H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606573	NM_177417.3(KLC3):c.442G>C (p.Glu148Gln)	KLC3, LOC125371530 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524349	NM_177417.3(KLC3):c.1459C>A (p.Leu487Met)	ERCC2, KLC3 (L487M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489811	NM_177417.3(KLC3):c.429G>T (p.Glu143Asp)	KLC3, LOC125371530 (E143D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477823	NM_177417.3(KLC3):c.427G>A (p.Glu143Lys)	KLC3, LOC125371530 (E143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454947	NM_177417.3(KLC3):c.1394T>C (p.Met465Thr)	ERCC2, KLC3 (M465T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454665	NM_177417.3(KLC3):c.1264G>A (p.Ala422Thr)	ERCC2, KLC3 (A422T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2411692	NM_177417.3(KLC3):c.1166A>G (p.Asn389Ser)	ERCC2, KLC3 (N389S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391029	NM_177417.3(KLC3):c.1298C>T (p.Ser433Phe)	ERCC2, KLC3 (S433F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364599	NM_177417.3(KLC3):c.470A>C (p.Asp157Ala)	KLC3, LOC125371530 (D157A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357158	NM_177417.3(KLC3):c.432G>T (p.Lys144Asn)	KLC3, LOC125371530 (K144N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335078	NM_177417.3(KLC3):c.1269A>C (p.Glu423Asp)	ERCC2, KLC3 (E423D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327294	NM_177417.3(KLC3):c.331C>T (p.Arg111Trp)	KLC3, LOC125371530 (R111W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319181	NM_177417.3(KLC3):c.1147T>G (p.Ser383Ala)	ERCC2, KLC3 (S383A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301848	NM_177417.3(KLC3):c.266T>C (p.Leu89Pro)	KLC3, LOC125371530 (L89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269304	NM_177417.3(KLC3):c.394G>A (p.Ala132Thr)	KLC3, LOC125371530 (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220443	NM_177417.3(KLC3):c.1352G>A (p.Arg451Gln)	ERCC2, KLC3 (R451Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219577	NM_177417.3(KLC3):c.1307G>A (p.Arg436His)	ERCC2, KLC3 (R436H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204162	NM_177417.3(KLC3):c.358C>T (p.Arg120Trp)	KLC3, LOC125371530 (R120W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1319785	NM_177417.3(KLC3):c.1486G>A (p.Ala496Thr)	KLC3, ERCC2 (A496T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1209384	NM_000400.4(ERCC2):c.*119del	ERCC2, KLC3	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 893432	NM_000400.4(ERCC2):c.*137G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893431	NM_000400.4(ERCC2):c.*162G>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 893430	NM_000400.4(ERCC2):c.*167C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892629	NM_000400.4(ERCC2):c.*181G>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 892628	NM_000400.4(ERCC2):c.*216G>A	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GLikely benign
Select item 892627	NM_000400.4(ERCC2):c.*224C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329499	NM_000400.4(ERCC2):c.*119C>G	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329498	NM_000400.4(ERCC2):c.*152T>C	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D	GUncertain significance
Select item 329497	NM_000400.4(ERCC2):c.*171G>C	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D +1 more	GBenign
Select item 329496	NM_177417.3(KLC3):c.*100C>T	ERCC2, KLC3	Single nucleotide variant (3 prime UTR variant)	Xeroderma pigmentosum, group D +3 more	GLikely benign
Select item 329495	NM_000400.4(ERCC2):c.205_206insA	ERCC2, KLC3	Insertion (3 prime UTR variant)	Xeroderma pigmentosum	GUncertain significance

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Links from Gene

Items: 47