KREMEN1[gene] and "single gene"[properties] - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663902	NM_001039570.3(KREMEN1):c.121G>C (p.Asp41His)	KREMEN1 (D41H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GUncertain significance
Select item 2615463	NM_001039570.3(KREMEN1):c.141C>A (p.Asn47Lys)	KREMEN1 (N47K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370496	NM_001039570.3(KREMEN1):c.166C>A (p.Pro56Thr)	KREMEN1 (P56T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116254	NM_001039570.3(KREMEN1):c.202T>C (p.Tyr68His)	KREMEN1 (Y68H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734221	NM_001039570.3(KREMEN1):c.233G>C (p.Gly78Ala)	KREMEN1 (G78A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2260241	NM_001039570.3(KREMEN1):c.277G>A (p.Val93Met)	KREMEN1 (V93M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589802	NM_001039570.3(KREMEN1):c.307G>A (p.Glu103Lys)	KREMEN1 (E103K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2764778	NM_001039570.3(KREMEN1):c.314G>C (p.Gly105Ala)	KREMEN1 (G105A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289288	NM_001039570.3(KREMEN1):c.344C>G (p.Ala115Gly)	KREMEN1 (A115G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2116375	NM_001039570.3(KREMEN1):c.353-1G>C	KREMEN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2310909	NM_001039570.3(KREMEN1):c.357del (p.Gly120fs)	KREMEN1 (G120fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2691777	NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp)	KREMEN1 (R154W)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GUncertain significance
Select item 2311905	NM_001039570.3(KREMEN1):c.461G>A (p.Arg154Gln)	KREMEN1 (R154Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1603774	NM_001039570.3(KREMEN1):c.471G>T (p.Arg157Ser)	KREMEN1 (R157S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790773	NM_001039570.3(KREMEN1):c.519C>T (p.Asn173=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3289284	NM_001039570.3(KREMEN1):c.571G>A (p.Val191Ile)	KREMEN1 (V191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 393469	NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser)	KREMEN1 (F209S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GPathogenic
Select item 2914495	NM_001039570.3(KREMEN1):c.631+7A>T	KREMEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 757154	NM_001039570.3(KREMEN1):c.648C>T (p.Cys216=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3289287	NM_001039570.3(KREMEN1):c.665C>T (p.Ala222Val)	KREMEN1 (A222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756769	NM_001039570.3(KREMEN1):c.699C>T (p.Pro233=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712873	NM_001039570.3(KREMEN1):c.739C>T (p.Arg247Trp)	KREMEN1 (R247W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2180156	NM_001039570.3(KREMEN1):c.747G>A (p.Pro249=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236177	NM_001039570.3(KREMEN1):c.791G>A (p.Arg264Lys)	KREMEN1 (R264K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361844	NM_001039570.3(KREMEN1):c.797C>T (p.Ser266Leu)	KREMEN1 (S266L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1642302	NM_001039570.3(KREMEN1):c.801G>A (p.Ala267=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2537053	NM_001039570.3(KREMEN1):c.830C>T (p.Thr277Ile)	KREMEN1 (T277I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2047685	NM_001039570.3(KREMEN1):c.838G>A (p.Val280Ile)	KREMEN1 (V280I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 769478	NM_001039570.3(KREMEN1):c.855C>T (p.His285=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1601570	NM_001039570.3(KREMEN1):c.874C>G (p.Leu292Val)	KREMEN1 (L292V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2052205	NM_001039570.3(KREMEN1):c.904A>G (p.Ile302Val)	KREMEN1 (I302V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2394803	NM_001039570.3(KREMEN1):c.923A>T (p.Asp308Val)	KREMEN1 (D308V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3289282	NM_001039570.3(KREMEN1):c.926G>A (p.Arg309His)	KREMEN1 (R309H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038085	NM_001039570.3(KREMEN1):c.936G>A (p.Gln312=)	KREMEN1	Single nucleotide variant (synonymous variant)	KREMEN1-related disorder	GLikely benign
Select item 2171185	NM_001039570.3(KREMEN1):c.965-4C>A	KREMEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708275	NM_001039570.3(KREMEN1):c.974A>G (p.Glu325Gly)	KREMEN1 (E325G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736102	NM_001039570.3(KREMEN1):c.988G>A (p.Glu330Lys)	KREMEN1 (E330K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2331523	NM_001039570.3(KREMEN1):c.1000G>A (p.Val334Ile)	KREMEN1 (V334I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595511	NM_001039570.3(KREMEN1):c.1010C>T (p.Thr337Met)	KREMEN1 (T337M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2735051	NM_001039570.3(KREMEN1):c.1012G>T (p.Val338Leu)	KREMEN1 (V338L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708276	NM_001039570.3(KREMEN1):c.1017C>T (p.Ala339=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3289283	NM_001039570.3(KREMEN1):c.1018G>A (p.Glu340Lys)	KREMEN1 (E340K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2079536	NM_001039570.3(KREMEN1):c.1054G>A (p.Ala352Thr)	KREMEN1 (A352T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2249236	NM_001039570.3(KREMEN1):c.1060C>T (p.Arg354Trp)	KREMEN1 (R354W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304878	NM_001039570.3(KREMEN1):c.1066T>G (p.Ser356Ala)	KREMEN1 (S356A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702735	NM_001039570.3(KREMEN1):c.1098del (p.Ser367fs)	KREMEN1 (S367fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2020047	NM_001039570.3(KREMEN1):c.1102C>T (p.His368Tyr)	KREMEN1 (H368Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289286	NM_001039570.3(KREMEN1):c.1123+1G>T	KREMEN1 (G375V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1987399	NM_001039570.3(KREMEN1):c.1123+62T>C	KREMEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777680	NM_001039570.3(KREMEN1):c.1197C>T (p.His399=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272157	NM_001039570.3(KREMEN1):c.1211C>T (p.Ser404Phe)	KREMEN1 (S404F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385336	NM_001039570.3(KREMEN1):c.1214A>G (p.His405Arg)	KREMEN1 (H422R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734222	NM_001039570.3(KREMEN1):c.1217G>A (p.Arg406His)	KREMEN1 (R406H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2258301	NM_001039570.3(KREMEN1):c.1241G>A (p.Arg414Lys)	KREMEN1 (R431K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708277	NM_001039570.3(KREMEN1):c.1242G>A (p.Arg414=)	KREMEN1	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 13, hair/tooth type +1 more	GBenign
Select item 2250121	NM_001039570.3(KREMEN1):c.1265C>T (p.Ser422Leu)	KREMEN1 (S439L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779479	NM_001039570.3(KREMEN1):c.1266G>A (p.Ser422=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2663904	NM_001039570.3(KREMEN1):c.1351G>A (p.Asp451Asn)	KREMEN1 (D451N +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GUncertain significance
Select item 2404604	NM_001039570.3(KREMEN1):c.1354C>T (p.Arg452Cys)	KREMEN1 (R452C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289285	NM_001039570.3(KREMEN1):c.1355G>A (p.Arg452His)	KREMEN1 (R452H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343383	NM_032045.5(KREMEN1):c.1459G>A (p.Gly487Arg)	KREMEN1 (G487R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 61