ClinVar for OMIM (Select 193900) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +1 more	GUncertain significance
Select item 881235	NM_002272.4(KRT4):c.359C>A (p.Thr120Asn)	KRT4 (T120N)	Single nucleotide variant (missense variant)	White sponge nevus 1 +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 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 631683	NM_002272.4(KRT4):c.834+2T>G	KRT4	Single nucleotide variant (splice donor variant)	White sponge nevus 1	GUncertain significance
Select item 323097	NM_153490.3(KRT13):c.540T>C (p.Ile180=)	KRT13	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GUncertain significance
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)	White sponge nevus 1 +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)	not provided +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)	Inborn genetic diseases +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)	White sponge nevus 1 +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 disorder +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)	White sponge nevus 1 +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)	White sponge nevus 1 +1 more	GUncertain significance
Select item 309682	NM_002272.4(KRT4):c.766G>A (p.Val256Met)	KRT4 (V256M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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
Select item 309677	NM_002272.4(KRT4):c.1020G>C (p.Ser340=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1 +2 more	GBenign
Select item 309676	NM_002272.4(KRT4):c.1080G>A (p.Arg360=)	KRT4	Single nucleotide variant (synonymous variant)	KRT4-related disorder +1 more	GBenign
Select item 309675	NM_002272.4(KRT4):c.1147G>A (p.Val383Met)	KRT4 (V383M)	Single nucleotide variant (missense variant)	White sponge nevus 1	GLikely benign
Select item 309674	NM_002272.4(KRT4):c.1192C>T (p.His398Tyr)	KRT4 (H398Y)	Single nucleotide variant (missense variant)	White sponge nevus 1	GLikely benign
Select item 309673	NM_002272.4(KRT4):c.1203C>T (p.Arg401=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309672	NM_002272.4(KRT4):c.1259G>A (p.Arg420His)	KRT4 (R420H)	Single nucleotide variant (missense variant)	White sponge nevus 1	GBenign
Select item 309671	NM_002272.4(KRT4):c.1346+15A>G	KRT4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 309670	NM_002272.4(KRT4):c.1381+15C>T	KRT4	Single nucleotide variant (intron variant)	White sponge nevus 1 +1 more	GBenign
Select item 309669	NM_002272.4(KRT4):c.1419C>T (p.Ser473=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309668	NM_002272.4(KRT4):c.1493T>C (p.Phe498Ser)	KRT4 (F498S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 309667	NM_002272.4(KRT4):c.1495G>C (p.Gly499Arg)	KRT4 (G499R)	Single nucleotide variant (missense variant)	White sponge nevus 1 +1 more	GConflicting classifications of pathogenicity
Select item 309666	NM_002272.4(KRT4):c.1512C>A (p.Gly504=)	KRT4	Single nucleotide variant (synonymous variant)	White sponge nevus 1	GBenign
Select item 309665	NM_002272.4(KRT4):c.*30T>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309664	NM_002272.4(KRT4):c.*68C>T	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309663	NM_002272.4(KRT4):c.*81T>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309662	NM_002272.4(KRT4):c.*126C>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 309661	NM_002272.4(KRT4):c.*133C>T	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309660	NM_002272.4(KRT4):c.*267G>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GBenign
Select item 309659	NM_002272.4(KRT4):c.*289G>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 309658	NM_002272.4(KRT4):c.*405G>A	KRT4	Single nucleotide variant (3 prime UTR variant)	White sponge nevus 1	GUncertain significance
Select item 66516	NM_002272.4(KRT4):c.*269A>G	KRT4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 16920	NM_002272.4(KRT4):c.1303G>A (p.Glu435Lys)	KRT4 (E435K)	Single nucleotide variant (missense variant)	White sponge nevus 1	GPathogenic
Select item 16919	NM_002272.4(KRT4):c.419_420insCAA (p.Gln140delinsHisLys)	KRT4	Insertion (inframe_indel)	White sponge nevus 1	GPathogenic
Select item 16918	NM_002272.4(KRT4):c.432CAA[2] (p.Asn146del)	KRT4 (N146del)	Microsatellite (inframe_deletion)	White sponge nevus 1	GPathogenic

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Items: 84