C0265354[trait identifier] AND "Genomic Diagnostic Laboratory, Divisio - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252677	NM_012431.3(SEMA3E):c.2155T>G (p.Tyr719Asp)	SEMA3E (Y719D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 218701	NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile)	SEMA3E (S701I +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 7 with or without anosmia +3 more	GBenign/Likely benign
Select item 267413	NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)	CHD7 (A99P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95782	NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)	CHD7 (S103T)	Single nucleotide variant (missense variant)	CHARGE association +4 more	GBenign/Likely benign
Select item 195321	NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)	CHD7 (R157*)	Single nucleotide variant (nonsense)	CHARGE association +3 more	GPathogenic
Select item 267414	NM_017780.4(CHD7):c.496C>T (p.Gln166Ter)	CHD7 (Q166*)	Single nucleotide variant (nonsense)	CHD7-related condition +1 more	GPathogenic
Select item 210725	NM_017780.4(CHD7):c.694C>A (p.Pro232Thr)	CHD7 (P232T)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 267415	NM_017780.4(CHD7):c.986A>G (p.Asn329Ser)	CHD7 (N329S)	Single nucleotide variant (missense variant)	CHARGE association	GConflicting classifications of pathogenicity
Select item 267416	NM_017780.4(CHD7):c.1006A>G (p.Asn336Asp)	CHD7 (N336D)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 95773	NM_017780.4(CHD7):c.1018A>G (p.Met340Val)	CHD7 (M340V)	Single nucleotide variant (missense variant)	CHARGE association +4 more	GBenign/Likely benign
Select item 267417	NM_017780.4(CHD7):c.1073del (p.Gly358fs)	CHD7 (G358fs)	Deletion (frameshift variant)	CHARGE association	GPathogenic
Select item 158279	NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	CHD7 (R494*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 241189	NM_017780.4(CHD7):c.1565G>T (p.Gly522Val)	CHD7 (G522V)	Single nucleotide variant (missense variant)	CHARGE association +5 more	GBenign/Likely benign
Select item 267418	NM_017780.4(CHD7):c.1812C>A (p.Asn604Lys)	CHD7, LOC126860403 (N604K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 95776	NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)	LOC126860403, CHD7	Duplication	Hypogonadism with anosmia +4 more	GBenign/Likely benign
Select item 267419	NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter)	CHD7 (E739*)	Single nucleotide variant (nonsense +1 more)	CHARGE association	GPathogenic
Select item 267420	NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)	CHD7 (Y835fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 267421	NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter)	CHD7 (R987*)	Single nucleotide variant (nonsense +1 more)	CHARGE association +1 more	GPathogenic
Select item 267422	NM_017780.4(CHD7):c.3071dup (p.Leu1025fs)	CHD7 (L1025fs)	Duplication (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 95784	NM_017780.4(CHD7):c.3202-5T>C	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign/Likely benign
Select item 267423	NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)	CHD7 (R1069*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 267424	NM_017780.4(CHD7):c.3241A>T (p.Ile1081Phe)	CHD7 (I1081F)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 267425	NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter)	CHD7 (Q1176*)	Single nucleotide variant (nonsense +1 more)	CHARGE association	GPathogenic
Select item 267426	NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs)	CHD7 (K1191fs)	Deletion (frameshift variant +1 more)	CHARGE association +1 more	GPathogenic
Select item 267427	NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp)	CHD7 (V1208D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 267428	NM_017780.4(CHD7):c.3674dup (p.Asn1225fs)	CHD7 (N1225fs)	Duplication (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 267429	NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs)	CHD7 (E1271fs)	Deletion (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 218745	NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro)	CHD7 (L1294P)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GPathogenic/Likely pathogenic
Select item 252713	NM_017780.4(CHD7):c.3964del (p.Leu1322fs)	CHD7 (L1322fs)	Deletion (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 267430	NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)	CHD7 (R1465*)	Single nucleotide variant (nonsense +1 more)	CHD7-related condition +2 more	GPathogenic
Select item 267431	NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs)	CHD7 (L1613fs)	Deletion (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 267432	NM_017780.4(CHD7):c.4849G>A (p.Gly1617Ser)	CHD7 (G1617S)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 95792	NM_017780.4(CHD7):c.5051-4C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE association +4 more	GBenign
Select item 267433	NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs)	CHD7 (Y1746fs)	Duplication (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 95795	NM_017780.4(CHD7):c.5405-7G>A	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GPathogenic
Select item 267434	NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter)	CHD7 (R1945*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 267435	NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter)	CHD7 (R2027*)	Single nucleotide variant (nonsense +1 more)	CHARGE association +1 more	GPathogenic
Select item 267436	NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter)	CHD7 (R2050*)	Single nucleotide variant (nonsense +1 more)	CHARGE association +1 more	GConflicting classifications of pathogenicity
Select item 158309	NM_017780.4(CHD7):c.6287A>G (p.His2096Arg)	CHD7 (H2096R)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GPathogenic/Likely pathogenic
Select item 267437	NM_017780.4(CHD7):c.7282dup (p.Arg2428fs)	CHD7 (R2428fs)	Duplication (frameshift variant +1 more)	CHARGE association	GPathogenic
Select item 267438	NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter)	CHD7 (Y2601*)	Duplication (nonsense +1 more)	CHARGE association	GPathogenic
Select item 267439	NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser)	CHD7 (N2651S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 218746	NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg)	CHD7 (G2786R +1 more)	Single nucleotide variant (missense variant)	CHARGE association +3 more	GConflicting classifications of pathogenicity
Select item 267441	NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs)	CHD7 (P2911fs +1 more)	Deletion (frameshift variant)	CHARGE association	GPathogenic
Select item 95816	NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe)	CHD7 (L2984F +1 more)	Single nucleotide variant (missense variant)	CHARGE association +4 more	GBenign/Likely benign
Select item 267440	NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)	CHD7 (D2988fs +1 more)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic

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Items: 46