ClinVar for MedGen (Select 75567) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3374743	NM_017780.4(CHD7):c.4644+1G>T	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 3367164	NM_017780.4(CHD7):c.5499_5500del (p.Gly1835fs)	CHD7 (G1835fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3367161	NM_017780.4(CHD7):c.4853G>A (p.Trp1618Ter)	CHD7 (W1618*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 3367038	NM_017780.4(CHD7):c.529C>T (p.Pro177Ser)	CHD7 (P177S)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3366845	NM_017780.4(CHD7):c.225T>G (p.Tyr75Ter)	CHD7 (Y75*)	Single nucleotide variant (nonsense)	CHARGE syndrome	GPathogenic
Select item 3362883	NM_017780.4(CHD7):c.1807_1808del (p.Asn603fs)	CHD7, LOC126860403 (N603fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3362340	NM_017780.4(CHD7):c.573C>G (p.Ser191Arg)	CHD7 (S191R)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3359101	NM_017780.4(CHD7):c.7165-1G>A	CHD7	Single nucleotide variant (splice acceptor variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3359089	NM_017780.4(CHD7):c.1665+1G>A	CHD7	Single nucleotide variant (splice donor variant)	CHARGE syndrome	GPathogenic
Select item 3359017	NM_017780.4(CHD7):c.2515C>T (p.Gln839Ter)	CHD7 (Q839*)	Single nucleotide variant (nonsense +1 more)	CHARGE syndrome	GPathogenic
Select item 3341160	NM_017780.4(CHD7):c.7314del (p.Glu2439fs)	CHD7 (E2439fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3336623	NM_017780.4(CHD7):c.216T>A (p.Tyr72Ter)	CHD7 (Y72*)	Single nucleotide variant (nonsense)	CHARGE syndrome	GPathogenic
Select item 3254735	NM_017780.4(CHD7):c.5995del (p.Ala1999fs)	CHD7 (A1999fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3254734	NM_017780.4(CHD7):c.4842dup (p.Val1615fs)	CHD7 (V1615fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3254732	NM_017780.4(CHD7):c.-15G>A	CHD7	Single nucleotide variant (5 prime UTR variant)	CHARGE syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3254623	NM_017780.4(CHD7):c.3990-1G>C	CHD7	Single nucleotide variant (splice acceptor variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3254613	NM_017780.4(CHD7):c.6883_6884insA (p.Ser2295fs)	CHD7 (S2295fs)	Insertion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3254568	NM_017780.4(CHD7):c.6289G>C (p.Asp2097His)	CHD7 (D2097H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3254567	NM_017780.4(CHD7):c.5894+1G>A	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3254564	NM_017780.4(CHD7):c.2835+1G>T	CHD7	Single nucleotide variant (splice donor variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3254538	NM_017780.4(CHD7):c.2716G>A (p.Val906Met)	CHD7 (V906M)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3250405	NM_017780.4(CHD7):c.4439_4440insCCCC (p.Lys1481fs)	CHD7 (K1481fs)	Insertion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3245717	NC_000007.13:g.(?_83277724)_(83614813_?)dup	SEMA3A, SEMA3E	Duplication	CHARGE syndrome	GUncertain significance
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 3245489	NC_000008.10:g.(?_61653992)_(62626930_?)del	ASPH, CHD7 +1 more	Deletion	CHARGE syndrome	GPathogenic
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 3236819	NM_017780.4(CHD7):c.3071C>T (p.Pro1024Leu)	CHD7 (P1024L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3236077	NM_017780.4(CHD7):c.5423C>T (p.Ser1808Phe)	CHD7 (S1808F)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3235916	NM_017780.4(CHD7):c.6419_6423del (p.Thr2140fs)	CHD7 (T2140fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3235218	NM_017780.4(CHD7):c.3523-42A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GUncertain significance
Select item 3235190	NM_017780.4(CHD7):c.7531A>G (p.Arg2511Gly)	CHD7 (R2511G)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3075696	NM_017780.4(CHD7):c.1931dup (p.Lys645fs)	CHD7, LOC126860403 (K645fs)	Duplication (frameshift variant +1 more)	CHARGE syndrome	GPathogenic
Select item 3068312	NM_017780.4(CHD7):c.584dup (p.Gly196fs)	CHD7 (G196fs)	Duplication (frameshift variant)	CHARGE syndrome	GPathogenic
Select item 3066197	NM_017780.4(CHD7):c.5475T>A (p.Asp1825Glu)	CHD7 (D1825E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
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 3027468	NM_017780.4(CHD7):c.3818del (p.His1273fs)	CHD7 (H1273fs)	Deletion (frameshift variant +1 more)	CHARGE syndrome	GLikely pathogenic
Select item 3024539	NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr)	CHD7 (A1398T)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
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 3023774	NM_012431.3(SEMA3E):c.760G>C (p.Glu254Gln)	SEMA3E (E194Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3023283	NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3022861	NM_017780.4(CHD7):c.1665+10C>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3022317	NM_017780.4(CHD7):c.6981G>A (p.Val2327=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3022304	NM_017780.4(CHD7):c.467T>A (p.Ile156Lys)	CHD7 (I156K)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3022181	NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3022108	NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)	SEMA3E (W673C +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3022075	NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)	CHD7 (E12K)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 3021885	NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)	SEMA3E (I281V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3021835	NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val)	CHD7 (L2563V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome +1 more	GUncertain significance
Select item 3021830	NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
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 3021466	NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)	SEMA3E (P96Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3020662	NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu)	CHD7 (F1360L)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3020420	NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)	SEMA3E (R343Q +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3020003	NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3019978	NM_017780.4(CHD7):c.7971+15A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3019734	NM_017780.4(CHD7):c.6456G>T (p.Gln2152His)	CHD7 (Q2152H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3019668	NM_017780.4(CHD7):c.8236G>A (p.Val2746Met)	CHD7 (V2746M +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3019493	NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3019250	NM_017780.4(CHD7):c.4917A>G (p.Val1639=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3017400	NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro)	CHD7 (S2040P)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3017359	NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu)	CHD7 (P394L)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3017350	NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg)	CHD7 (K2331R)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3017131	NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GBenign
Select item 3016865	NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)	CHD7 (H1128Y)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3016297	NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)	CHD7 (V2708I +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 3016294	NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser)	CHD7 (L1579S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3015263	NM_012431.3(SEMA3E):c.551-14A>T	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3015217	NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3014586	NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)	CHD7 (P86L)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 3014512	NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3014228	NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu)	CHD7 (D1582E)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3014034	NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)	CHD7	Microsatellite (nonsense)	CHARGE syndrome	GPathogenic
Select item 3013680	NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)	SEMA3E (S125G +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3013617	NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)	CHD7 (I2572V)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GBenign
Select item 3012949	NM_017780.4(CHD7):c.2766G>A (p.Gln922=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3012903	NM_017780.4(CHD7):c.867C>A (p.Thr289=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GLikely benign
Select item 3012541	NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)	CHD7 (P435L)	Single nucleotide variant (missense variant)	CHARGE syndrome	GBenign
Select item 3012188	NM_012431.3(SEMA3E):c.1143+15A>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3011370	NM_017780.4(CHD7):c.4899A>T (p.Gln1633His)	CHD7 (Q1633H)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3009787	NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE syndrome	GBenign
Select item 3009608	NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser)	CHD7 (G2138S)	Single nucleotide variant (missense variant +1 more)	CHARGE syndrome	GUncertain significance
Select item 3008091	NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3007882	NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg)	CHD7 (Q492R)	Single nucleotide variant (missense variant)	CHARGE syndrome	GLikely benign
Select item 3007501	NM_017780.4(CHD7):c.5608-20T>A	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GLikely benign
Select item 3007210	NM_017780.4(CHD7):c.2498+15del	CHD7	Deletion (intron variant)	CHARGE syndrome	GLikely benign
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 3004223	NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)	SEMA3E (D569Y +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3003911	NM_017780.4(CHD7):c.1761G>T (p.Leu587=)	CHD7, LOC126860403	Single nucleotide variant (intron variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3003331	NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GBenign
Select item 3003158	NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3003157	NM_017780.4(CHD7):c.2730A>G (p.Ser910=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE syndrome	GLikely benign
Select item 3002986	NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)	SEMA3E (I464V +1 more)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3002364	NM_017780.4(CHD7):c.466A>G (p.Ile156Val)	CHD7 (I156V)	Single nucleotide variant (missense variant)	CHARGE syndrome	GUncertain significance
Select item 3000605	NM_017780.4(CHD7):c.3522+4T>G	CHD7	Single nucleotide variant (intron variant)	CHARGE syndrome	GUncertain significance

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