ClinVar for MedGen (Select 765467) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251907	NM_017780.4(CHD7):c.6371T>G (p.Phe2124Cys)	CHD7 (F2124C)	Single nucleotide variant (missense variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia	GLikely pathogenic
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 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 3024249	NM_017780.4(CHD7):c.4928_4939dup (p.Ile1646_Leu1647insArgArgThrIle)	CHD7	Duplication (inframe_insertion +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 2905611	NM_012431.3(SEMA3E):c.287C>T (p.Pro96Leu)	SEMA3E (P36L +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2782505	NM_017780.4(CHD7):c.1867G>T (p.Gly623Trp)	CHD7, LOC126860403 (G623W)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
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 2503801	NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del	CHD7	Deletion	Hypogonadotropic hypogonadism 5 with or without anosmia	GLikely pathogenic
Select item 2198967	NM_017780.4(CHD7):c.8191G>A (p.Ala2731Thr)	CHD7 (A2731T +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2000460	NM_017780.4(CHD7):c.6830G>A (p.Ser2277Asn)	CHD7 (S2277N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1716048	NM_017780.4(CHD7):c.7184C>G (p.Ser2395Cys)	CHD7 (S2395C)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1710203	NM_017780.4(CHD7):c.8094del (p.Met2699fs)	CHD7 (M2699fs +1 more)	Deletion (frameshift variant)	Hypogonadotropic hypogonadism 5 with or without anosmia	GLikely pathogenic
Select item 1695655	NM_017780.4(CHD7):c.8588C>A (p.Ala2863Asp)	CHD7 (A2863D +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1684268	NM_017780.4(CHD7):c.1681C>A (p.Pro561Thr)	CHD7, LOC126860403 (P561T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GUncertain significance
Select item 1676546	NM_017780.4(CHD7):c.8546del (p.Glu2849fs)	CHD7 (E2849fs +1 more)	Deletion	CHARGE syndrome +1 more	GPathogenic
Select item 1663919	NM_017780.4(CHD7):c.4170C>T (p.Pro1390=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1649481	NM_017780.4(CHD7):c.3378+18T>C	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1649196	NM_017780.4(CHD7):c.5301-13T>C	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1645061	NM_017780.4(CHD7):c.3778+16T>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1637597	NM_017780.4(CHD7):c.2097-9G>C	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1633752	NM_017780.4(CHD7):c.4185+19C>T	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1617238	NM_017780.4(CHD7):c.3522+20T>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1601989	NM_017780.4(CHD7):c.6924G>C (p.Ser2308=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +1 more	GLikely benign
Select item 1601422	NM_017780.4(CHD7):c.5665+11A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GBenign/Likely benign
Select item 1588957	NM_017780.4(CHD7):c.4047C>T (p.Ile1349=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +1 more	GLikely benign
Select item 1584792	NM_017780.4(CHD7):c.4644+17A>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1576844	NM_017780.4(CHD7):c.2835+18G>C	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GBenign/Likely benign
Select item 1562525	NM_017780.4(CHD7):c.4881C>T (p.His1627=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +1 more	GLikely benign
Select item 1557104	NM_017780.4(CHD7):c.2377-17C>T	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GLikely benign
Select item 1536054	NM_017780.4(CHD7):c.486G>A (p.Gln162=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign
Select item 1527978	NC_000008.11:g.60867891_60867903delins60868515_60868872	CHD7	Indel	Hypogonadotropic hypogonadism 5 with or without anosmia	GUncertain significance
Select item 1524512	NM_017780.4(CHD7):c.1238T>G (p.Val413Gly)	CHD7 (V413G)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 1508955	NM_017780.4(CHD7):c.6632C>A (p.Ala2211Asp)	CHD7 (A2211D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1505791	NM_017780.4(CHD7):c.8194G>A (p.Ala2732Thr)	CHD7 (A2732T +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1504937	NM_017780.4(CHD7):c.7010G>A (p.Arg2337His)	CHD7 (R2337H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1502248	NM_017780.4(CHD7):c.2071A>G (p.Lys691Glu)	CHD7, LOC126860403 (K691E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 1501998	NM_017780.4(CHD7):c.548C>T (p.Pro183Leu)	CHD7 (P183L)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1499058	NM_017780.4(CHD7):c.4621G>A (p.Asp1541Asn)	CHD7 (D1541N)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1496560	NM_017780.4(CHD7):c.3161G>A (p.Arg1054Gln)	CHD7 (R1054Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1495061	NM_017780.4(CHD7):c.3298C>T (p.Arg1100Cys)	CHD7 (R1100C)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 1494697	NM_017780.4(CHD7):c.671A>G (p.Asn224Ser)	CHD7 (N224S)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 1492570	NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr)	CHD7 (A1236T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1478598	NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys)	CHD7 (S2933C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1476353	NM_017780.4(CHD7):c.278C>T (p.Thr93Ile)	CHD7 (T93I)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 1474873	NM_017780.4(CHD7):c.7198C>T (p.Arg2400Trp)	CHD7 (R2400W)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 1472795	NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val)	CHD7 (I2323V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1450784	NM_017780.4(CHD7):c.5735G>A (p.Arg1912His)	CHD7 (R1912H)	Single nucleotide variant (intron variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GConflicting classifications of pathogenicity
Select item 1436190	NM_017780.4(CHD7):c.2836-5A>G	CHD7	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +1 more	GUncertain significance
Select item 1434528	NM_017780.4(CHD7):c.7718A>G (p.Asn2573Ser)	CHD7 (N2573S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1434199	NM_017780.4(CHD7):c.1997A>G (p.Lys666Arg)	CHD7, LOC126860403 (K666R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1431054	NM_017780.4(CHD7):c.109A>G (p.Met37Val)	CHD7 (M37V)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1411516	NM_017780.4(CHD7):c.6782C>T (p.Ala2261Val)	CHD7 (A2261V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GUncertain significance
Select item 1404483	NM_017780.4(CHD7):c.736G>C (p.Ala246Pro)	CHD7 (A246P)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1404412	NM_017780.4(CHD7):c.2498+3A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1403579	NM_017780.4(CHD7):c.938A>G (p.Tyr313Cys)	CHD7 (Y313C)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1402962	NM_017780.4(CHD7):c.2071A>C (p.Lys691Gln)	CHD7, LOC126860403 (K691Q)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GUncertain significance
Select item 1390205	NM_017780.4(CHD7):c.1042C>A (p.Pro348Thr)	CHD7 (P348T)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1372104	NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys)	CHD7 (E2853K +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1359827	NM_017780.4(CHD7):c.2098A>G (p.Asn700Asp)	CHD7 (N700D)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 1353512	NM_017780.4(CHD7):c.8231T>C (p.Leu2744Ser)	CHD7 (L2744S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1342438	NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg)	CHD7 (Q526R)	Single nucleotide variant (missense variant)	CHARGE syndrome +1 more	GUncertain significance
Select item 1337650	NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu)	CHD7, LOC126860403 (P656L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1315548	NM_017780.4(CHD7):c.3043A>G (p.Ile1015Val)	CHD7 (I1015V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GUncertain significance
Select item 1313796	NM_017780.4(CHD7):c.4795C>G (p.Gln1599Glu)	CHD7 (Q1599E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1313508	NM_017780.4(CHD7):c.1346A>G (p.Asn449Ser)	CHD7 (N449S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1313323	NM_017780.4(CHD7):c.6178C>G (p.Leu2060Val)	CHD7 (L2060V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GUncertain significance
Select item 1313108	NM_017780.4(CHD7):c.5863A>G (p.Arg1955Gly)	CHD7 (R1955G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1311987	NM_017780.4(CHD7):c.1445G>C (p.Gly482Ala)	CHD7 (G482A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1310774	NM_017780.4(CHD7):c.1707T>A (p.Asp569Glu)	CHD7, LOC126860403 (D569E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1310695	NM_017780.4(CHD7):c.6169C>T (p.Arg2057Cys)	CHD7 (R2057C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1309738	NM_017780.4(CHD7):c.4734C>G (p.Asp1578Glu)	CHD7 (D1578E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1308473	NM_017780.4(CHD7):c.1163G>A (p.Gly388Glu)	CHD7 (G388E)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1307111	NM_017780.4(CHD7):c.7972A>G (p.Met2658Val)	CHD7 (M2658V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1306658	NM_017780.4(CHD7):c.8767G>A (p.Ala2923Thr)	CHD7 (A2923T +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome +2 more	GUncertain significance
Select item 1306110	NM_017780.4(CHD7):c.1493G>A (p.Gly498Asp)	CHD7 (G498D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1305487	NM_017780.4(CHD7):c.7868C>T (p.Pro2623Leu)	CHD7 (P2623L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1304959	NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln)	CHD7 (R1945Q)	Single nucleotide variant (missense variant +1 more)	CHD7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1303999	NM_017780.4(CHD7):c.8411C>T (p.Ala2804Val)	CHD7 (A2804V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1301242	NM_017780.4(CHD7):c.2675G>A (p.Arg892His)	CHD7 (R892H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1297732	NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu)	CHD7 (M1574L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1297509	NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val)	CHD7 (A2714V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1234328	NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser)	CHD7 (R2495S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +3 more	GBenign/Likely benign
Select item 1216189	NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val)	CHD7 (I1080V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1214247	NM_017780.4(CHD7):c.3778+17C>T	CHD7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1213425	NM_017780.4(CHD7):c.5865G>A (p.Arg1955=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +2 more	GLikely benign
Select item 1212751	NM_017780.4(CHD7):c.3523-12G>A	CHD7	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 1209289	NM_017780.4(CHD7):c.831G>C (p.Pro277=)	CHD7	Single nucleotide variant (synonymous variant)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GLikely benign
Select item 1201277	NM_017780.4(CHD7):c.5029C>A (p.Arg1677=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +2 more	GLikely benign
Select item 1189838	NM_017780.4(CHD7):c.381T>C (p.Pro127=)	CHD7	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1183087	NM_017780.4(CHD7):c.2656C>T (p.Arg886Trp)	CHD7 (R886W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1158332	NM_017780.4(CHD7):c.4014C>T (p.Gly1338=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	Hypogonadotropic hypogonadism 5 with or without anosmia +2 more	GLikely benign
Select item 1145989	NM_017780.4(CHD7):c.7863G>A (p.Gln2621=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +3 more	GLikely benign
Select item 1136039	NM_017780.4(CHD7):c.2643T>C (p.Tyr881=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +1 more	GLikely benign
Select item 1133383	NM_017780.4(CHD7):c.8187C>T (p.Ala2729=)	CHD7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 1132076	NM_017780.4(CHD7):c.7119C>T (p.Ser2373=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +3 more	GLikely benign
Select item 1129936	NM_017780.4(CHD7):c.4182C>G (p.Leu1394=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +1 more	GLikely benign
Select item 1118979	NM_017780.4(CHD7):c.4653G>A (p.Leu1551=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome +2 more	GLikely benign
Select item 1110998	NM_017780.4(CHD7):c.1704G>A (p.Pro568=)	LOC126860403, CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome +1 more	GLikely benign

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