ClinVar for MedGen (Select 1619150) - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233438	NM_001270.4(CHD1):c.1066G>T (p.Asp356Tyr)	CHD1 (D356Y)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3068302	NM_001270.4(CHD1):c.4385T>A (p.Leu1462Gln)	CHD1 (L1462Q +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3068151	NM_001270.4(CHD1):c.527A>G (p.Asp176Gly)	CHD1 (D176G)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3068015	NM_001270.4(CHD1):c.3514G>T (p.Val1172Leu)	CHD1 (V1172L)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 3065580	NM_001270.4(CHD1):c.490del (p.Ser164fs)	CHD1 (S164fs)	Deletion (frameshift variant +1 more)	Pilarowski-Bjornsson syndrome	GLikely pathogenic
Select item 3064556	NM_001270.4(CHD1):c.656A>T (p.Asp219Val)	CHD1 (D219V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2688768	NM_001270.4(CHD1):c.1165C>A (p.Gln389Lys)	CHD1 (Q389K)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2664845	NM_001270.4(CHD1):c.4760A>G (p.Asp1587Gly)	CHD1 (D1587G +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2584679	NM_001270.4(CHD1):c.2979T>A (p.Asp993Glu)	CHD1 (D993E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2582374	NM_001270.4(CHD1):c.2569-11A>G	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2582297	NM_001270.4(CHD1):c.4712C>G (p.Ser1571Cys)	CHD1 (S1571C +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2442344	NM_001270.4(CHD1):c.643dup (p.Ser215fs)	CHD1 (S215fs)	Duplication (frameshift variant +1 more)	Pilarowski-Bjornsson syndrome	GLikely pathogenic
Select item 2439964	NM_001270.4(CHD1):c.2964+3A>G	CHD1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439963	NM_001270.4(CHD1):c.4646A>C (p.His1549Pro)	CHD1 (H1549P +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439962	NM_001270.4(CHD1):c.458G>A (p.Gly153Glu)	CHD1 (G153E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439961	NM_001270.4(CHD1):c.4552A>C (p.Asn1518His)	CHD1 (N1518H +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439960	NM_001270.4(CHD1):c.4753C>T (p.His1585Tyr)	CHD1 (H1585Y +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439959	NM_001270.4(CHD1):c.788T>C (p.Val263Ala)	CHD1 (V263A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439958	NM_001270.4(CHD1):c.966G>A (p.Trp322Ter)	CHD1 (W322*)	Single nucleotide variant (nonsense +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439957	NM_001270.4(CHD1):c.1082G>T (p.Arg361Ile)	CHD1 (R361I)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439956	NM_001270.4(CHD1):c.362G>T (p.Gly121Val)	CHD1 (G121V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439955	NM_001270.4(CHD1):c.2336C>T (p.Ala779Val)	CHD1 (A779V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439953	NM_001270.4(CHD1):c.3941G>T (p.Ser1314Ile)	CHD1 (S1314I)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439952	NM_001270.4(CHD1):c.2434C>G (p.Gln812Glu)	CHD1 (Q812E)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439951	NM_001270.4(CHD1):c.607A>C (p.Lys203Gln)	CHD1 (K203Q)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439950	NM_001270.4(CHD1):c.1177C>T (p.Arg393Cys)	CHD1 (R393C)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2439949	NM_001270.4(CHD1):c.2606T>C (p.Leu869Pro)	CHD1 (L869P)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2431730	NM_001270.4(CHD1):c.1807C>G (p.Leu603Val)	CHD1 (L603V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 2429179	NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)	CHD1 (E1045K)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GLikely pathogenic
Select item 1805410	NM_001270.4(CHD1):c.679A>G (p.Asn227Asp)	CHD1 (N227D)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1805196	NM_001270.4(CHD1):c.3547A>G (p.Ser1183Gly)	CHD1 (S1183G)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1801360	NM_001270.4(CHD1):c.4886C>G (p.Ser1629Cys)	CHD1 (S1629C +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1710449	NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)	CHD1 (I660V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GLikely pathogenic
Select item 1710279	NM_001270.4(CHD1):c.1493A>G (p.Lys498Arg)	CHD1 (K498R)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1709126	NM_001270.4(CHD1):c.2042A>G (p.Tyr681Cys)	CHD1 (Y681C)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1708078	NM_001270.4(CHD1):c.1992G>T (p.Lys664Asn)	CHD1 (K664N)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GLikely benign
Select item 1705503	NM_001270.4(CHD1):c.461C>T (p.Ser154Leu)	CHD1 (S154L)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1699377	NM_001270.4(CHD1):c.3571+5C>T	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1699359	NM_001270.4(CHD1):c.2353C>T (p.Arg785Cys)	CHD1 (R785C)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1679616	NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr)	CHD1 (R1659T +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1342472	NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp)	CHD1	Indel (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1341810	NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg)	CHD1 (K1333R)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1213798	NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter)	CHD1 (S1617* +1 more)	Single nucleotide variant (nonsense +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1033800	NM_001270.4(CHD1):c.242T>C (p.Val81Ala)	CHD1, LOC126807465 (V81A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1031944	NM_001270.4(CHD1):c.4427+17T>G	CHD1	Single nucleotide variant (intron variant)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1031943	NM_001270.4(CHD1):c.271C>T (p.Pro91Ser)	CHD1 (P91S)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027857	NM_001270.4(CHD1):c.4792T>C (p.Tyr1598His)	CHD1 (Y1598H +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027856	NM_001270.4(CHD1):c.4551G>T (p.Leu1517Phe)	CHD1 (L1517F +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027855	NM_001270.4(CHD1):c.3335G>T (p.Arg1112Leu)	CHD1 (R1112L)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 1027854	NM_001270.4(CHD1):c.205T>C (p.Ser69Pro)	CHD1, LOC126807465 (S69P)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 996964	NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg)	CHD1 (G1113R)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 982846	NM_001270.4(CHD1):c.662A>T (p.Asp221Val)	CHD1 (D221V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome +1 more	GUncertain significance
Select item 930735	NM_001270.4(CHD1):c.2848A>G (p.Thr950Ala)	CHD1 (T950A)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 771152	NM_001270.4(CHD1):c.4033A>G (p.Ile1345Val)	CHD1 (I1345V)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome +1 more	GBenign/Likely benign
Select item 716116	NM_001270.4(CHD1):c.1371A>G (p.Leu457=)	CHD1	Single nucleotide variant (synonymous variant +1 more)	Pilarowski-Bjornsson syndrome +1 more	GBenign/Likely benign
Select item 635543	NM_000091.5(COL4A3):c.3575G>A (p.Gly1192Glu)	COL4A3, MFF-DT (G1192E)	Single nucleotide variant (missense variant)	Autosomal recessive Alport syndrome +1 more	GLikely pathogenic
Select item 635463	NM_001270.4(CHD1):c.470C>G (p.Pro157Arg)	CHD1 (P157R)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 635459	NM_001270.4(CHD1):c.4894C>G (p.Arg1632Gly)	CHD1 (R1632G +1 more)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GUncertain significance
Select item 438821	NM_001270.4(CHD1):c.1379G>A (p.Arg460Lys)	CHD1 (R460K)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GPathogenic
Select item 438820	NM_001270.4(CHD1):c.5123G>A (p.Arg1708Gln)	CHD1 (R1708Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 438819	NM_001270.4(CHD1):c.1853G>A (p.Arg618Gln)	CHD1 (R618Q)	Single nucleotide variant (missense variant +1 more)	Pilarowski-Bjornsson syndrome	GPathogenic
Select item 422585	NM_001270.4(CHD1):c.421A>G (p.Arg141Gly)	CHD1 (R141G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 62