ClinVar for MedGen (Select 75567) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068312	NM_017780.4(CHD7):c.584dup (p.Gly196fs)	CHD7 (G196fs)	Duplication (frameshift variant)	CHARGE association	GPathogenic
Select item 3066197	NM_017780.4(CHD7):c.5475T>A (p.Asp1825Glu)	CHD7 (D1825E)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3065554	NM_017780.4(CHD7):c.8054G>A (p.Trp2685Ter)	CHD7 (W2685* +1 more)	Single nucleotide variant (nonsense)	CHARGE association	GUncertain significance
Select item 3064419	NM_017780.4(CHD7):c.4527T>G (p.Phe1509Leu)	CHD7 (F1509L)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3062252	NM_017780.4(CHD7):c.7504dup (p.Leu2502fs)	CHD7 (L2502fs)	Duplication (frameshift variant +1 more)	CHARGE association	GLikely pathogenic
Select item 3062235	NM_017780.4(CHD7):c.8509G>T (p.Glu2837Ter)	CHD7 (E2837* +1 more)	Single nucleotide variant (nonsense)	CHARGE association	GLikely pathogenic
Select item 3062077	NM_017780.4(CHD7):c.7402C>T (p.Pro2468Ser)	CHD7 (P2468S)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3062037	NM_017780.4(CHD7):c.4001A>G (p.Glu1334Gly)	CHD7 (E1334G)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3027468	NM_017780.4(CHD7):c.3818del (p.His1273fs)	CHD7 (H1273fs)	Deletion (frameshift variant +1 more)	CHARGE association	GLikely pathogenic
Select item 3024539	NM_017780.4(CHD7):c.4192G>A (p.Ala1398Thr)	CHD7 (A1398T)	Single nucleotide variant (missense variant +1 more)	CHARGE association	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 association	GUncertain significance
Select item 3023283	NM_012431.3(SEMA3E):c.555T>C (p.Ser185=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 3022861	NM_017780.4(CHD7):c.1665+10C>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 3022317	NM_017780.4(CHD7):c.6981G>A (p.Val2327=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3022304	NM_017780.4(CHD7):c.467T>A (p.Ile156Lys)	CHD7 (I156K)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3022181	NM_017780.4(CHD7):c.8664A>G (p.Leu2888=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 3022108	NM_012431.3(SEMA3E):c.2199G>T (p.Trp733Cys)	SEMA3E (W673C +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3022075	NM_017780.4(CHD7):c.34G>A (p.Glu12Lys)	CHD7 (E12K)	Single nucleotide variant (missense variant)	CHARGE association	GLikely benign
Select item 3021885	NM_012431.3(SEMA3E):c.1021A>G (p.Ile341Val)	SEMA3E (I281V +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3021835	NM_017780.4(CHD7):c.7687C>G (p.Leu2563Val)	CHD7 (L2563V)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3021830	NM_017780.4(CHD7):c.4257C>T (p.Ser1419=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3021663	NM_017780.4(CHD7):c.2048A>G (p.Lys683Arg)	CHD7, LOC126860403 (K683R)	Single nucleotide variant (intron variant +1 more)	CHARGE association	GUncertain significance
Select item 3021466	NM_012431.3(SEMA3E):c.287C>A (p.Pro96Gln)	SEMA3E (P96Q +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3020662	NM_017780.4(CHD7):c.4080T>G (p.Phe1360Leu)	CHD7 (F1360L)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3020420	NM_012431.3(SEMA3E):c.1208G>A (p.Arg403Gln)	SEMA3E (R343Q +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3020003	NM_017780.4(CHD7):c.6240C>G (p.Leu2080=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3019978	NM_017780.4(CHD7):c.7971+15A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 3019734	NM_017780.4(CHD7):c.6456G>T (p.Gln2152His)	CHD7 (Q2152H)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3019668	NM_017780.4(CHD7):c.8236G>A (p.Val2746Met)	CHD7 (V2746M +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3019493	NM_017780.4(CHD7):c.4824G>A (p.Arg1608=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3019250	NM_017780.4(CHD7):c.4917A>G (p.Val1639=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3017400	NM_017780.4(CHD7):c.6118T>C (p.Ser2040Pro)	CHD7 (S2040P)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3017359	NM_017780.4(CHD7):c.1181C>T (p.Pro394Leu)	CHD7 (P394L)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3017350	NM_017780.4(CHD7):c.6992A>G (p.Lys2331Arg)	CHD7 (K2331R)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3017131	NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GBenign
Select item 3016865	NM_017780.4(CHD7):c.3382C>T (p.His1128Tyr)	CHD7 (H1128Y)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GLikely benign
Select item 3016297	NM_017780.4(CHD7):c.8122G>A (p.Val2708Ile)	CHD7 (V2708I +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GLikely benign
Select item 3016294	NM_017780.4(CHD7):c.4736T>C (p.Leu1579Ser)	CHD7 (L1579S)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3015263	NM_012431.3(SEMA3E):c.551-14A>T	SEMA3E	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 3015217	NM_012431.3(SEMA3E):c.84T>C (p.Thr28=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 3014586	NM_017780.4(CHD7):c.257C>T (p.Pro86Leu)	CHD7 (P86L)	Single nucleotide variant (missense variant)	CHARGE association	GLikely benign
Select item 3014512	NM_017780.4(CHD7):c.6180G>T (p.Leu2060=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3014228	NM_017780.4(CHD7):c.4746T>G (p.Asp1582Glu)	CHD7 (D1582E)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3014034	NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)	CHD7	Microsatellite (nonsense)	CHARGE association	GPathogenic
Select item 3013680	NM_012431.3(SEMA3E):c.553A>G (p.Ser185Gly)	SEMA3E (S125G +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3013617	NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)	CHD7 (I2572V)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GBenign
Select item 3012949	NM_017780.4(CHD7):c.2766G>A (p.Gln922=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3012903	NM_017780.4(CHD7):c.867C>A (p.Thr289=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 3012541	NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)	CHD7 (P435L)	Single nucleotide variant (missense variant)	CHARGE association	GBenign
Select item 3012188	NM_012431.3(SEMA3E):c.1143+15A>G	SEMA3E	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 3011370	NM_017780.4(CHD7):c.4899A>T (p.Gln1633His)	CHD7 (Q1633H)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3009787	NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association	GBenign
Select item 3009608	NM_017780.4(CHD7):c.6412G>A (p.Gly2138Ser)	CHD7 (G2138S)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 3008091	NM_017780.4(CHD7):c.5379C>T (p.Ser1793=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3007882	NM_017780.4(CHD7):c.1475A>G (p.Gln492Arg)	CHD7 (Q492R)	Single nucleotide variant (missense variant)	CHARGE association	GLikely benign
Select item 3007501	NM_017780.4(CHD7):c.5608-20T>A	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 3007210	NM_017780.4(CHD7):c.2498+15del	CHD7	Deletion (intron variant)	CHARGE association	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 association	GUncertain significance
Select item 3004223	NM_012431.3(SEMA3E):c.1885G>T (p.Asp629Tyr)	SEMA3E (D569Y +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3003911	NM_017780.4(CHD7):c.1761G>T (p.Leu587=)	CHD7, LOC126860403	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3003331	NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GBenign
Select item 3003158	NM_017780.4(CHD7):c.6993A>G (p.Lys2331=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3003157	NM_017780.4(CHD7):c.2730A>G (p.Ser910=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 3002986	NM_012431.3(SEMA3E):c.1390A>G (p.Ile464Val)	SEMA3E (I464V +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3002364	NM_017780.4(CHD7):c.466A>G (p.Ile156Val)	CHD7 (I156V)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 3000605	NM_017780.4(CHD7):c.3522+4T>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GUncertain significance
Select item 3000564	NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala)	CHD7 (T2455A)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GBenign
Select item 3000289	NM_017780.4(CHD7):c.5277G>A (p.Lys1759=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 2998341	NM_012431.3(SEMA3E):c.1557T>C (p.Cys519=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 2995276	NM_017780.4(CHD7):c.1666-20T>C	CHD7, LOC126860403	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 2994997	NM_012431.3(SEMA3E):c.2013G>A (p.Glu671=)	SEMA3E	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 2994020	NM_017780.4(CHD7):c.6681T>G (p.Thr2227=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GBenign
Select item 2993349	NM_017780.4(CHD7):c.2327A>G (p.Asp776Gly)	CHD7 (D776G)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 2992853	NM_012431.3(SEMA3E):c.1052C>T (p.Ala351Val)	SEMA3E (A291V +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 2992560	NM_017780.4(CHD7):c.5666-18G>A	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 2991476	NM_017780.4(CHD7):c.3606A>G (p.Glu1202=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 2987519	NM_017780.4(CHD7):c.6873C>T (p.Asp2291=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association +1 more	GLikely benign
Select item 2986278	NM_017780.4(CHD7):c.2521G>A (p.Ala841Thr)	CHD7 (A841T)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GLikely benign
Select item 2985235	NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys)	CHD7 (E2974K +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GBenign
Select item 2982278	NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)	CHD7 (E970*)	Single nucleotide variant (nonsense +1 more)	CHARGE association	GPathogenic
Select item 2981916	NM_017780.4(CHD7):c.6033G>A (p.Leu2011=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 2981245	NM_017780.4(CHD7):c.3705A>T (p.Gln1235His)	CHD7 (Q1235H)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GLikely benign
Select item 2978814	NM_017780.4(CHD7):c.546C>T (p.His182=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association	GBenign
Select item 2978458	NM_017780.4(CHD7):c.1277G>A (p.Ser426Asn)	CHD7 (S426N)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 2977879	NM_017780.4(CHD7):c.5926C>T (p.Arg1976Cys)	CHD7 (R1976C)	Single nucleotide variant (missense variant +1 more)	CHARGE association	GUncertain significance
Select item 2977144	NM_017780.4(CHD7):c.1136A>G (p.Gln379Arg)	CHD7 (Q379R)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 2976522	NM_017780.4(CHD7):c.2232T>G (p.Gly744=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 2974104	NM_012431.3(SEMA3E):c.802C>T (p.Arg268Ter)	SEMA3E (R268* +1 more)	Single nucleotide variant (nonsense)	CHARGE association	GUncertain significance
Select item 2973635	NM_017780.4(CHD7):c.7831-20A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 2973247	NM_017780.4(CHD7):c.36G>A (p.Glu12=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 2973246	NM_017780.4(CHD7):c.27T>G (p.Leu9=)	CHD7	Single nucleotide variant (synonymous variant)	CHARGE association	GLikely benign
Select item 2968787	NM_012431.3(SEMA3E):c.150T>C (p.His50=)	SEMA3E	Single nucleotide variant (5 prime UTR variant +1 more)	CHARGE association	GUncertain significance
Select item 2968750	NM_017780.4(CHD7):c.5250A>G (p.Gln1750=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GLikely benign
Select item 2967513	NM_017780.4(CHD7):c.6103+3A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GUncertain significance
Select item 2967454	NM_017780.4(CHD7):c.8933G>A (p.Gly2978Asp)	CHD7 (G929D +1 more)	Single nucleotide variant (missense variant)	CHARGE association	GUncertain significance
Select item 2967209	NM_017780.4(CHD7):c.2377-16A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 2965411	NM_017780.4(CHD7):c.2442+10A>G	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 2964965	NM_017780.4(CHD7):c.3202-18T>C	CHD7	Single nucleotide variant (intron variant)	CHARGE association	GLikely benign
Select item 2964268	NM_017780.4(CHD7):c.6921C>T (p.Phe2307=)	CHD7	Single nucleotide variant (synonymous variant +1 more)	CHARGE association	GBenign

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