Related gene-specific medical variations for Gene (Select 55636) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245491	NC_000008.10:g.(?_61777555)_(61778492_?)dup	CHD7	Duplication	CHARGE syndrome	GUncertain significance
Select item 3245490	NC_000008.10:g.(?_61720756)_(61720851_?)del	CHD7	Deletion	CHARGE syndrome	GPathogenic
Select item 3238856	NM_017780.4(CHD7):c.1898C>A (p.Ser633Ter)	CHD7, LOC126860403 (S633*)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia	GPathogenic
Select item 3238745	NM_017780.4(CHD7):c.5389G>T (p.Gly1797Ter)	CHD7 (G1797*)	Single nucleotide variant (nonsense +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia	GPathogenic
Select item 3237520	NM_017780.4(CHD7):c.1250G>A (p.Ser417Asn)	CHD7 (S417N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 3237471	NM_017780.4(CHD7):c.4863G>A (p.Trp1621Ter)	CHD7 (W1621*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GPathogenic
Select item 3237465	NM_017780.4(CHD7):c.5397del (p.Phe1799fs)	CHD7 (F1799fs)	Deletion (frameshift variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia	GPathogenic
Select item 3235916	NM_017780.4(CHD7):c.6419_6423del (p.Thr2140fs)	CHD7 (T2140fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3075696	NM_017780.4(CHD7):c.1931dup (p.Lys645fs)	CHD7, LOC126860403 (K645fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3065554	NM_017780.4(CHD7):c.8054G>A (p.Trp2685Ter)	CHD7 (W2685* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome	GUncertain significance
Select item 3064419	NM_017780.4(CHD7):c.4527T>G (p.Phe1509Leu)	CHD7 (F1509L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3062252	NM_017780.4(CHD7):c.7504dup (p.Leu2502fs)	CHD7 (L2502fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 3062235	NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)	CHD7 (E2837* +1 more)	Single nucleotide variant (nonsense)	CHARGE syndrome	GLikely pathogenic
Select item 3062077	NM_017780.4(CHD7):c.7402C>T (p.Pro2468Ser)	CHD7 (P2468S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3062037	NM_017780.4(CHD7):c.4001A>G (p.Glu1334Gly)	CHD7 (E1334G)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3055937	NM_017780.4(CHD7):c.2053del (p.Ala685fs)	CHD7, LOC126860403 (A685fs)	Deletion (frameshift variant +1 more)	CHD7-related disorder	GPathogenic
Select item 3026259	NM_017780.4(CHD7):c.1697C>G (p.Pro566Arg)	CHD7, LOC126860403 (P566R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021663	NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg)	CHD7, LOC126860403 (K683R)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3004551	NM_017780.4(CHD7):c.1870G>A (p.Val624Ile)	CHD7, LOC126860403 (V624I)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3003911	NM_017780.4(CHD7):c.1761G>T (p.Leu587=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2995276	NM_017780.4(CHD7):c.1666-20T>C	CHD7, LOC126860403	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 2917674	NM_017780.4(CHD7):c.1851A>C (p.Lys617Asn)	CHD7, LOC126860403 (K617N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2914527	NM_017780.4(CHD7):c.1944G>C (p.Lys648Asn)	CHD7, LOC126860403 (K648N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2907003	NM_017780.4(CHD7):c.1785A>G (p.Gln595=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2906804	NM_017780.4(CHD7):c.1957C>T (p.Pro653Ser)	CHD7, LOC126860403 (P653S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2889497	NM_017780.4(CHD7):c.1957C>G (p.Pro653Ala)	CHD7, LOC126860403 (P653A)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2874514	NM_017780.4(CHD7):c.1740A>G (p.Leu580=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2872101	NM_017780.4(CHD7):c.1759C>T (p.Leu587=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2855387	NM_017780.4(CHD7):c.1903G>C (p.Asp635His)	LOC126860403, CHD7 (D635H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2847803	NM_017780.4(CHD7):c.1666-5C>A	CHD7, LOC126860403	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 2838937	NM_017780.4(CHD7):c.1962G>C (p.Lys654Asn)	CHD7, LOC126860403 (K654N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2820148	NM_017780.4(CHD7):c.1948A>G (p.Lys650Glu)	CHD7, LOC126860403 (K650E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2816109	NM_017780.4(CHD7):c.1762C>T (p.Pro588Ser)	CHD7, LOC126860403 (P588S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2811568	NM_017780.4(CHD7):c.2004C>T (p.Pro668=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2799149	NM_017780.4(CHD7):c.2022T>C (p.Pro674=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2782505	NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)	CHD7, LOC126860403 (G623W)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2748874	NM_017780.4(CHD7):c.2076C>T (p.Pro692=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2744564	NM_017780.4(CHD7):c.1928A>C (p.Lys643Thr)	CHD7, LOC126860403 (K643T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2734662	NM_017780.4(CHD7):c.1886T>C (p.Leu629Pro)	CHD7, LOC126860403 (L629P)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2725342	NM_017780.4(CHD7):c.2037G>A (p.Glu679=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2720916	NM_017780.4(CHD7):c.1666-16T>C	CHD7, LOC126860403	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
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 2672108	NM_017780.4(CHD7):c.7240G>A (p.Ala2414Thr)	CHD7 (A2414T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2665017	NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)	CHD7 (L2489I)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2658618	NM_017780.4(CHD7):c.1742T>A (p.Val581Glu)	CHD7, LOC126860403 (V581E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2658617	NM_017780.4(CHD7):c.1687C>G (p.Leu563Val)	CHD7, LOC126860403 (L563V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637912	NM_017780.4(CHD7):c.5894+1G>T	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 2627072	NM_017780.4(CHD7):c.1748G>C (p.Ser583Thr)	CHD7, LOC126860403 (S583T)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 2585866	NM_017780.4(CHD7):c.1996A>G (p.Lys666Glu)	CHD7, LOC126860403 (K666E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2582649	NM_017780.4(CHD7):c.4928G>A (p.Cys1643Tyr)	CHD7 (C1643Y)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 2582535	NM_017780.4(CHD7):c.6186dup (p.Lys2063fs)	CHD7 (K2063fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 2582458	NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)	CHD7 (K1122fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 2582429	NM_017780.4(CHD7):c.6962A>T (p.Asp2321Val)	CHD7 (D2321V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2582383	NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)	CHD7 (L1647fs)	Indel (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 2579133	NM_017780.4(CHD7):c.2544del (p.Asp849fs)	CHD7 (D849fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 2578528	NM_017780.4(CHD7):c.1697del (p.Pro566fs)	CHD7, LOC126860403 (P566fs)	Deletion (frameshift variant)	CHARGE syndrome	GPathogenic
Select item 2576066	NM_017780.4(CHD7):c.451C>T (p.Gln151Ter)	CHD7 (Q151*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2576045	NM_017780.4(CHD7):c.7459G>T (p.Ala2487Ser)	CHD7 (A2487S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571931	NM_017780.4(CHD7):c.2083A>T (p.Ser695Cys)	CHD7, LOC126860403 (S695C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2514763	NM_017780.4(CHD7):c.1769T>C (p.Ile590Thr)	CHD7, LOC126860403 (I590T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2499195	NM_017780.4(CHD7):c.1864G>A (p.Gly622Ser)	CHD7, LOC126860403 (G622S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2461536	NM_017780.4(CHD7):c.1724G>C (p.Gly575Ala)	CHD7, LOC126860403 (G575A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2450721	NM_017780.4(CHD7):c.2010C>G (p.Thr670=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2442083	NM_017780.4(CHD7):c.5300+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE syndrome	GPathogenic
Select item 2441920	NM_017780.4(CHD7):c.1412T>C (p.Leu471Ser)	CHD7 (L471S)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 2441884	NM_017780.4(CHD7):c.2238G>C (p.Gln746His)	CHD7 (Q746H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	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 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 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 2439998	NM_017780.4(CHD7):c.814A>C (p.Ser272Arg)	CHD7 (S272R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2439994	NM_017780.4(CHD7):c.1309C>T (p.His437Tyr)	CHD7 (H437Y)	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 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 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 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 2429971	NM_017780.4(CHD7):c.2241G>C (p.Lys747Asn)	CHD7 (K747N)	Single nucleotide variant (missense variant +1 more)	Autism spectrum disorder	GLikely benign
Select item 2291871	NM_017780.4(CHD7):c.1853A>G (p.Asp618Gly)	CHD7, LOC126860403 (D618G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257935	NM_017780.4(CHD7):c.1840G>C (p.Gly614Arg)	CHD7, LOC126860403 (G614R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2197545	NM_017780.4(CHD7):c.1840G>T (p.Gly614Cys)	CHD7, LOC126860403 (G614C)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2195374	NM_017780.4(CHD7):c.1812C>T (p.Asn604=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2187578	NM_017780.4(CHD7):c.1708A>G (p.Met570Val)	CHD7, LOC126860403 (M570V)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 2185986	NM_017780.4(CHD7):c.1879C>A (p.Gln627Lys)	CHD7, LOC126860403 (Q627K)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2184041	NM_017780.4(CHD7):c.2009C>A (p.Thr670Asn)	CHD7, LOC126860403 (T670N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2181682	NM_017780.4(CHD7):c.1717G>T (p.Val573Phe)	CHD7, LOC126860403 (V573F)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2179968	NM_017780.4(CHD7):c.1721G>A (p.Ser574Asn)	CHD7, LOC126860403 (S574N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2177139	NM_017780.4(CHD7):c.1861C>T (p.Pro621Ser)	CHD7, LOC126860403 (P621S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2152897	NM_017780.4(CHD7):c.1674G>C (p.Pro558=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 2140939	NM_017780.4(CHD7):c.1918_1919delinsTT (p.Glu640Leu)	CHD7, LOC126860403 (E640L)	Indel (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2136682	NM_017780.4(CHD7):c.1947A>C (p.Ala649=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 2127178	NM_017780.4(CHD7):c.2096+8G>A	CHD7, LOC126860403	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 2044112	NM_017780.4(CHD7):c.1952A>C (p.Lys651Thr)	CHD7, LOC126860403 (K651T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2032296	NM_017780.4(CHD7):c.1716G>C (p.Gln572His)	CHD7, LOC126860403 (Q572H)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 2017156	NM_017780.4(CHD7):c.1808del (p.Asn603fs)	CHD7, LOC126860403 (N603fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 2005546	NM_017780.4(CHD7):c.1865G>C (p.Gly622Ala)	CHD7, LOC126860403 (G622A)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 2002820	NM_017780.4(CHD7):c.2009C>G (p.Thr670Ser)	CHD7, LOC126860403 (T670S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 1992267	NM_017780.4(CHD7):c.1671C>T (p.Ser557=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 1985975	NM_017780.4(CHD7):c.1722T>G (p.Ser574Arg)	CHD7, LOC126860403 (S574R)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 1978617	NM_017780.4(CHD7):c.1819G>A (p.Val607Ile)	CHD7, LOC126860403 (V607I)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely benign

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