"Revvity Omics, Revvity"[submitter] AND "CHD7"[gene] - ClinVar

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

Search results

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 267413	NM_017780.4(CHD7):c.295G>C (p.Ala99Pro)	CHD7 (A99P)	Single nucleotide variant (missense variant)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 1324068	NM_017780.4(CHD7):c.343del (p.His115fs)	CHD7 (H115fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2440001	NM_017780.4(CHD7):c.507_515dup (p.Pro172_Ala173insProGlnPro)	CHD7	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1324067	NM_017780.4(CHD7):c.535dup (p.Ala179fs)	CHD7 (A179fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 854635	NM_017780.4(CHD7):c.602A>G (p.Gln201Arg)	CHD7 (Q201R)	Single nucleotide variant (missense variant)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 1059726	NM_017780.4(CHD7):c.661A>G (p.Asn221Asp)	CHD7 (N221D)	Single nucleotide variant (missense variant)	CHARGE association +1 more	GUncertain significance
Select item 2439998	NM_017780.4(CHD7):c.814A>C (p.Ser272Arg)	CHD7 (S272R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439994	NM_017780.4(CHD7):c.1309C>T (p.His437Tyr)	CHD7 (H437Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688774	NM_017780.4(CHD7):c.1311C>G (p.His437Gln)	CHD7 (H437Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1215416	NM_017780.4(CHD7):c.1424T>C (p.Met475Thr)	CHD7 (M475T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158279	NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)	CHD7 (R494*)	Single nucleotide variant (nonsense)	CHARGE association +1 more	GPathogenic
Select item 1322077	NM_017780.4(CHD7):c.1633dup (p.Gln545fs)	CHD7 (Q545fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 431960	NM_017780.4(CHD7):c.2273G>A (p.Arg758His)	CHD7 (R758H)	Single nucleotide variant (missense variant +1 more)	CHD7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 643867	NM_017780.4(CHD7):c.2375A>G (p.Gln792Arg)	CHD7 (Q792R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 267420	NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs)	CHD7 (Y835fs)	Deletion (frameshift variant +1 more)	CHARGE association +1 more	GPathogenic
Select item 1304529	NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln)	CHD7 (R886Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95781	NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter)	CHD7 (R947*)	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GPathogenic
Select item 282588	NM_017780.4(CHD7):c.3241A>G (p.Ile1081Val)	CHD7 (I1081V)	Single nucleotide variant (missense variant +1 more)	CHD7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 95786	NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn)	CHD7 (K1122N)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 2658621	NM_017780.4(CHD7):c.3565C>T (p.Arg1189Cys)	CHD7 (R1189C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 529138	NM_017780.4(CHD7):c.3988C>T (p.Arg1330Trp)	CHD7 (R1330W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1322078	NM_017780.4(CHD7):c.3999T>G (p.Tyr1333Ter)	CHD7 (Y1333*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2439996	NM_017780.4(CHD7):c.4055T>C (p.Phe1352Ser)	CHD7 (F1352S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1437526	NM_017780.4(CHD7):c.4516G>A (p.Gly1506Ser)	CHD7 (G1506S)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 503614	NM_017780.4(CHD7):c.5050+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	not provided	GPathogenic
Select item 2439995	NM_017780.4(CHD7):c.5087A>G (p.Lys1696Arg)	CHD7 (K1696R)	Single nucleotide variant (missense variant +1 more)	CHARGE association +2 more	GConflicting classifications of pathogenicity
Select item 2439990	NM_017780.4(CHD7):c.5308G>T (p.Asp1770Tyr)	CHD7 (D1770Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 363467	NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr)	CHD7 (A1814T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 411183	NM_017780.4(CHD7):c.5459G>A (p.Arg1820Gln)	CHD7 (R1820Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1805874	NM_017780.4(CHD7):c.5893A>C (p.Lys1965Gln)	CHD7 (K1965Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1211199	NM_017780.4(CHD7):c.6107C>T (p.Pro2036Leu)	CHD7 (P2036L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440000	NM_017780.4(CHD7):c.6492T>A (p.Asp2164Glu)	CHD7 (D2164E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 971285	NM_017780.4(CHD7):c.6775+1G>T	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE association +1 more	GPathogenic
Select item 95809	NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn)	CHD7 (S2362N)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 651924	NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu)	CHD7 (D2390E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2439999	NM_017780.4(CHD7):c.7184C>T (p.Ser2395Phe)	CHD7 (S2395F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 844761	NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln)	CHD7 (R2418Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 523619	NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter)	CHD7 (R2428*)	Single nucleotide variant (nonsense +1 more)	CHARGE association +1 more	GPathogenic
Select item 2439997	NM_017780.4(CHD7):c.7415C>T (p.Thr2472Ile)	CHD7 (T2472I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1322079	NM_017780.4(CHD7):c.7441C>T (p.Gln2481Ter)	CHD7 (Q2481*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2439991	NM_017780.4(CHD7):c.7654C>A (p.Pro2552Thr)	CHD7 (P2552T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 418655	NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter)	CHD7 (R2627* +1 more)	Single nucleotide variant (nonsense)	CHD7-related disorder +2 more	GPathogenic
Select item 2439992	NM_017780.4(CHD7):c.7945G>A (p.Val2649Ile)	CHD7 (V2649I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 158321	NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)	CHD7 (R2653* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 1700819	NM_017780.4(CHD7):c.8225A>G (p.Asn2742Ser)	CHD7 (N2742S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439993	NM_017780.4(CHD7):c.8318T>C (p.Met2773Thr)	CHD7 (M724T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197037	NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val)	CHD7 (A2789V +1 more)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GConflicting classifications of pathogenicity
Select item 1950861	NM_017780.4(CHD7):c.8837C>T (p.Pro2946Leu)	CHD7 (P897L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 48