ClinVar for Gene (Select 3851) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 130

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3033342	NM_002272.4(KRT4):c.720C>T (p.Asp240=)	KRT4	Single nucleotide variant (synonymous variant)	KRT4-related condition	GLikely benign
Select item 2603570	NM_002272.4(KRT4):c.1176T>G (p.Asn392Lys)	KRT4 (N392K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543273	NM_002272.4(KRT4):c.1531A>G (p.Ile511Val)	KRT4 (I511V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536009	NM_002272.4(KRT4):c.1265A>G (p.Tyr422Cys)	KRT4 (Y422C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517001	NM_002272.4(KRT4):c.70G>A (p.Gly24Ser)	KRT4 (G24S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2488672	NM_002272.4(KRT4):c.704C>T (p.Thr235Ile)	KRT4 (T235I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483961	NM_002272.4(KRT4):c.344A>T (p.Asn115Ile)	KRT4 (N115I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460575	NM_002272.4(KRT4):c.499A>G (p.Thr167Ala)	KRT4 (T167A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455800	NM_002272.4(KRT4):c.833C>A (p.Ala278Glu)	KRT4 (A278E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400019	NM_002272.4(KRT4):c.5T>C (p.Ile2Thr)	KRT4 (I2T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365045	NM_002272.4(KRT4):c.133G>T (p.Gly45Trp)	KRT4 (G45W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333174	NM_002272.4(KRT4):c.731T>C (p.Leu244Pro)	KRT4 (L244P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313366	NM_002272.4(KRT4):c.1541C>T (p.Thr514Ile)	KRT4 (T514I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312434	NM_002272.4(KRT4):c.1056G>C (p.Lys352Asn)	KRT4 (K352N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298786	NM_002272.4(KRT4):c.1308C>G (p.Ile436Met)	KRT4 (I436M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277456	NM_002272.4(KRT4):c.164T>C (p.Leu55Pro)	KRT4 (L55P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271355	NM_002272.4(KRT4):c.1062A>C (p.Glu354Asp)	KRT4 (E354D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238495	NM_002272.4(KRT4):c.124T>A (p.Cys42Ser)	KRT4 (C42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220070	NM_002272.4(KRT4):c.377T>C (p.Ile126Thr)	KRT4 (I126T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217368	NM_002272.4(KRT4):c.307G>A (p.Val103Ile)	KRT4 (V103I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209455	NM_002272.4(KRT4):c.896A>G (p.Asn299Ser)	KRT4 (N299S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808850	GRCh37/hg19 12q13.13(chr12:52914324-53250644)x3	KRT1, KRT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1290336	NM_002272.4(KRT4):c.999+90A>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287977	NM_002272.4(KRT4):c.462+60G>A	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275627	NM_002272.4(KRT4):c.739-214A>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267686	NM_002272.4(KRT4):c.463-278C>T	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264187	NM_002272.4(KRT4):c.835-225C>T	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251178	NM_002272.4(KRT4):c.677+104G>A	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247167	NM_002272.4(KRT4):c.738+213T>C	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246289	NM_002272.4(KRT4):c.1126-32G>A	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231227	NM_002272.4(KRT4):c.678-157A>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179600	NM_002272.4(KRT4):c.738+16T>G	KRT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1150080	NM_002272.4(KRT4):c.801C>A (p.Asp267Glu)	KRT4 (D267E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 883597	NM_002272.4(KRT4):c.361C>A (p.Pro121Thr)	KRT4 (P121T)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GConflicting classifications of pathogenicity
Select item 883554	NM_002272.4(KRT4):c.1204G>A (p.Val402Ile)	KRT4 (V402I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 883553	NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys)	KRT4 (R420C)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 882765	NM_002272.4(KRT4):c.1346+15A>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GLikely benign
Select item 882764	NM_002272.4(KRT4):c.1347-3C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 882763	NM_002272.4(KRT4):c.1386G>A (p.Val462=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 882762	NM_002272.4(KRT4):c.1417A>T (p.Ser473Cys)	KRT4 (S473C)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 882761	NM_002272.4(KRT4):c.1441G>A (p.Gly481Arg)	KRT4 (G481R)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 881698	NM_002272.4(KRT4):c.31G>A (p.Gly11Arg)	KRT4 (G11R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 881697	NM_002272.4(KRT4):c.193G>A (p.Val65Met)	KRT4 (V65M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 881649	NM_002272.4(KRT4):c.801C>T (p.Asp267=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 881603	NM_002272.4(KRT4):c.1467C>A (p.Gly489=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 881236	NM_002272.4(KRT4):c.317C>G (p.Ala106Gly)	KRT4 (A106G)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 881235	NM_002272.4(KRT4):c.359C>A (p.Thr120Asn)	KRT4 (T120N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 881187	NM_002272.4(KRT4):c.954T>C (p.Ile318=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 881186	NM_002272.4(KRT4):c.983C>T (p.Ala328Val)	KRT4 (A328V)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 881185	NM_002272.4(KRT4):c.1072C>G (p.Leu358Val)	KRT4 (L358V)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 881137	NM_002272.4(KRT4):c.*496T>G	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 815527	GRCh37/hg19 12q13.13(chr12:52914323-53238344)x3	KRT73, KRT78 +10 more	Copy number gain	not provided	GUncertain significance
Select item 778637	NM_002272.4(KRT4):c.1318C>T (p.Arg440Cys)	KRT4 (R440C)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 768551	NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)	KRT4	Insertion (inframe_insertion)	not specified +1 more	GBenign/Likely benign
Select item 743163	NM_002272.4(KRT4):c.156C>G (p.Leu52=)	KRT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 631683	NM_002272.4(KRT4):c.834+2T>G	KRT4	Single nucleotide variant (splice donor variant)	White sponge nevus 1	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	HMGA2, HNF1A +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 309716	NM_002272.4(KRT4):c.-54A>T	KRT4	Single nucleotide variant (5 prime UTR variant)	White sponge nevus 1	GLikely benign
Select item 309715	NM_002272.4(KRT4):c.-51G>A	KRT4	Single nucleotide variant (5 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309714	NM_002272.4(KRT4):c.25C>G (p.Arg9Gly)	KRT4 (R9G)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 309713	NM_002272.4(KRT4):c.54C>G (p.Gly18=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 309712	NM_002272.4(KRT4):c.122G>A (p.Arg41Gln)	KRT4 (R41Q)	Single nucleotide variant (missense variant)	KRT4-related condition +1 more	GBenign
Select item 309711	NM_002272.4(KRT4):c.186C>T (p.Ser62=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 309710	NM_002272.4(KRT4):c.205C>T (p.Arg69Ter)	KRT4 (R69*)	Single nucleotide variant (nonsense)	White sponge nevus 1	GLikely benign
Select item 309709	NM_002272.4(KRT4):c.215C>T (p.Ala72Val)	KRT4 (A72V)	Single nucleotide variant (missense variant)	KRT4-related condition +2 more	GBenign
Select item 309708	NM_002272.4(KRT4):c.224G>A (p.Gly75Glu)	KRT4 (G75E)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 309707	NM_002272.4(KRT4):c.261T>A (p.Gly87=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309706	NM_002272.4(KRT4):c.267T>C (p.Phe89=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309705	NM_002272.4(KRT4):c.288G>A (p.Lys96=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309704	NM_002272.4(KRT4):c.306C>T (p.Pro102=)	KRT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 309703	NM_002272.4(KRT4):c.353T>G (p.Leu118Trp)	KRT4 (L118W)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 309702	NM_002272.4(KRT4):c.364C>G (p.Leu122Val)	KRT4 (L122V)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GUncertain significance
Select item 309701	NM_002272.4(KRT4):c.404C>T (p.Thr135Met)	KRT4 (T135M)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GBenign
Select item 309700	NM_002272.4(KRT4):c.405G>A (p.Thr135=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 309699	NM_002272.4(KRT4):c.456C>T (p.Ile152=)	KRT4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 309698	NM_002272.4(KRT4):c.457G>A (p.Asp153Asn)	KRT4 (D153N)	Single nucleotide variant (missense variant)	White sponge nevus 1	GUncertain significance
Select item 309697	NM_002272.4(KRT4):c.463-9T>C	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 309696	NM_002272.4(KRT4):c.466C>T (p.Gln156Ter)	KRT4 (Q156*)	Single nucleotide variant (nonsense)	White sponge nevus 1	GLikely benign
Select item 309695	NM_002272.4(KRT4):c.467A>G (p.Gln156Arg)	KRT4 (Q156R)	Single nucleotide variant (missense variant)	KRT4-related condition +2 more	GBenign
Select item 309694	NM_002272.4(KRT4):c.475G>A (p.Glu159Lys)	KRT4 (E159K)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 309693	NM_002272.4(KRT4):c.513G>A (p.Leu171=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign
Select item 309692	NM_002272.4(KRT4):c.527C>T (p.Thr176Met)	KRT4 (T176M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 309691	NM_002272.4(KRT4):c.548A>G (p.Asn183Ser)	KRT4 (N183S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 309690	NM_002272.4(KRT4):c.558C>G (p.Pro186=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309689	NM_002272.4(KRT4):c.623G>A (p.Arg208His)	KRT4 (R208H)	Single nucleotide variant (missense variant)	KRT4-related condition +1 more	GBenign
Select item 309688	NM_002272.4(KRT4):c.677+4C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 309687	NM_002272.4(KRT4):c.678-14G>A	KRT4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 309686	NM_002272.4(KRT4):c.678-10C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GUncertain significance
Select item 309685	NM_002272.4(KRT4):c.678-3C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1 +1 more	GBenign
Select item 309684	NM_002272.4(KRT4):c.726G>A (p.Val242=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
Select item 309683	NM_002272.4(KRT4):c.741C>G (p.Asp247Glu)	KRT4 (D247E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 309682	NM_002272.4(KRT4):c.766G>A (p.Val256Met)	KRT4 (V256M)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GConflicting classifications of pathogenicity
Select item 309681	NM_002272.4(KRT4):c.835-4G>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1	GBenign
Select item 309680	NM_002272.4(KRT4):c.870G>A (p.Thr290=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309679	NM_002272.4(KRT4):c.873C>T (p.Ser291=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1 +1 more	GBenign/Likely benign
Select item 309678	NM_002272.4(KRT4):c.945C>T (p.Tyr315=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GLikely benign

<< First< Prev

Page of 2