"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 588812	NM_017780.4(CHD7):c.127A>G (p.Ile43Val)	CHD7 (I43V)	Single nucleotide variant (missense variant)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95782	NM_017780.4(CHD7):c.307T>A (p.Ser103Thr)	CHD7 (S103T)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 195321	NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)	CHD7 (R157*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 618017	NM_017780.4(CHD7):c.538C>T (p.Gln180Ter)	CHD7 (Q180*)	Single nucleotide variant (nonsense)	CHARGE syndrome +1 more	GPathogenic
Select item 811739	NM_017780.4(CHD7):c.559C>T (p.Gln187Ter)	CHD7 (Q187*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 993936	NM_017780.4(CHD7):c.775del (p.His259fs)	CHD7 (H259fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 95773	NM_017780.4(CHD7):c.1018A>G (p.Met340Val)	CHD7 (M340V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
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 158324	NM_017780.4(CHD7):c.1665+34G>A	CHD7	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 993689	NM_017780.4(CHD7):c.1808_1811del (p.Asn603fs)	CHD7, LOC126860403 (N603fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 993844	NM_017780.4(CHD7):c.1938del (p.Arg646fs)	CHD7, LOC126860403 (R646fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 587800	NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu)	CHD7 (K729E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 158325	NM_017780.4(CHD7):c.2238+39G>A	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +3 more	GBenign
Select item 660551	NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter)	CHD7 (Q753*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome +1 more	GPathogenic
Select item 210715	NM_017780.4(CHD7):c.2614-14del	CHD7	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 592245	NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter)	CHD7 (R1339*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome +1 more	GPathogenic
Select item 811091	NM_017780.4(CHD7):c.4654G>T (p.Val1552Phe)	CHD7 (V1552F)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely pathogenic
Select item 95792	NM_017780.4(CHD7):c.5051-4C>T	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign
Select item 260911	NM_017780.4(CHD7):c.5894+32C>G	CHD7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 95799	NM_017780.4(CHD7):c.6103+8C>T	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +3 more	GBenign
Select item 95800	NM_017780.4(CHD7):c.6111C>T (p.Pro2037=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign
Select item 158306	NM_017780.4(CHD7):c.6135G>A (p.Pro2045=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +4 more	GBenign
Select item 95802	NM_017780.4(CHD7):c.6276G>A (p.Glu2092=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +4 more	GBenign
Select item 994418	NM_017780.4(CHD7):c.6627del (p.Glu2210fs)	CHD7 (E2210fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 95808	NM_017780.4(CHD7):c.6738G>A (p.Glu2246=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +4 more	GBenign
Select item 196708	NM_017780.4(CHD7):c.6771C>T (p.Pro2257=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618016	NM_017780.4(CHD7):c.6989del (p.Gly2330fs)	CHD7 (G2330fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 196915	NM_017780.4(CHD7):c.7209G>A (p.Arg2403=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 158314	NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)	CHD7 (R2418*)	Single nucleotide variant (nonsense +1 more)	not specified +2 more	GPathogenic
Select item 95811	NM_017780.4(CHD7):c.7356A>G (p.Thr2452=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +4 more	GBenign
Select item 158317	NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)	CHD7 (M2527L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 158320	NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)	CHD7 (R2631* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 439494	NM_017780.4(CHD7):c.8610G>A (p.Ala2870=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +2 more	GLikely benign

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Items: 33