57647[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 155589	GRCh38/hg38 12q24.21-24.33(chr12:114268403-133201316)x3	LOC130009126, LOC130009127 +906 more	Copy number gain	See cases	GPathogenic
Select item 59821	GRCh38/hg38 12q24.21-24.33(chr12:115131583-133166920)x3	LOC130009192, LOC130009193 +892 more	Copy number gain	See cases	GPathogenic
Select item 57207	GRCh38/hg38 12q24.23-24.33(chr12:118165459-133182322)x3	LOC132090050, LOC132090051 +786 more	Copy number gain	See cases	GPathogenic
Select item 148578	GRCh38/hg38 12q24.31-24.33(chr12:120697672-133202490)x3	AACS, ABCB9 +663 more	Copy number gain	See cases	GPathogenic
Select item 154387	GRCh38/hg38 12q24.31-24.32(chr12:120718786-127500215)x1	AACS, ABCB9 +416 more	Copy number loss	See cases	GPathogenic
Select item 155183	GRCh38/hg38 12q24.31-24.32(chr12:121917758-127802717)x1	AACS, ABCB9 +330 more	Copy number loss	See cases	GPathogenic
Select item 57612	GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1	AACS, ATP6V0A2 +292 more	Copy number loss	See cases	GPathogenic
Select item 57448	GRCh38/hg38 12q24.31-24.33(chr12:123444758-133191400)x3	AACS, ADGRD1 +412 more	Copy number gain	See cases	GPathogenic
Select item 146222	GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3	AACS, ADGRD1 +408 more	Copy number gain	See cases	GPathogenic
Select item 1931135	NM_032656.4(DHX37):c.3459C>G (p.Pro1153=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728144	NM_032656.4(DHX37):c.3442G>A (p.Glu1148Lys)	DHX37 (E1148K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 735695	NM_032656.4(DHX37):c.3440T>C (p.Ile1147Thr)	DHX37 (I1147T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2177300	NM_032656.4(DHX37):c.3436G>A (p.Asp1146Asn)	DHX37 (D1146N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903286	NM_032656.4(DHX37):c.3427A>G (p.Met1143Val)	DHX37 (M1143V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678357	NM_032656.4(DHX37):c.3425C>G (p.Ala1142Gly)	DHX37 (A1142G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2204950	NM_032656.4(DHX37):c.3407G>A (p.Cys1136Tyr)	DHX37 (C1136Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582138	NM_032656.4(DHX37):c.3390C>A (p.Tyr1130Ter)	DHX37 (Y1130*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1971107	NM_032656.4(DHX37):c.3389-11C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1921907	NM_032656.4(DHX37):c.3388+12C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3501675	NM_032656.4(DHX37):c.3343G>A (p.Asp1115Asn)	DHX37 (D1115N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2956451	NM_032656.4(DHX37):c.3327G>C (p.Leu1109=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2063687	NM_032656.4(DHX37):c.3322G>T (p.Ala1108Ser)	DHX37 (A1108S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1978724	NM_032656.4(DHX37):c.3313C>T (p.Leu1105Phe)	DHX37 (L1105F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3501672	NM_032656.4(DHX37):c.3311G>C (p.Ser1104Thr)	DHX37 (S1104T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2086178	NM_032656.4(DHX37):c.3306G>A (p.Thr1102=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031398	NM_032656.4(DHX37):c.3302G>T (p.Arg1101Leu)	DHX37 (R1101L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030048	NM_032656.4(DHX37):c.3302G>A (p.Arg1101His)	DHX37 (R1101H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3025788	NM_032656.4(DHX37):c.3301C>T (p.Arg1101Cys)	DHX37 (R1101C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2018185	NM_032656.4(DHX37):c.3291-20C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972010	NM_032656.4(DHX37):c.3290+15G>A	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868198	NM_032656.4(DHX37):c.3290+12G>A	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116489	NM_032656.4(DHX37):c.3290+12G>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974690	NM_032656.4(DHX37):c.3290+11C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854412	NM_032656.4(DHX37):c.3290+8C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779405	NM_032656.4(DHX37):c.3283T>C (p.Trp1095Arg)	DHX37 (W1095R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691930	NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met)	DHX37 (T1094M)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +2 more	GLikely pathogenic
Select item 1910687	NM_032656.4(DHX37):c.3268A>G (p.Thr1090Ala)	DHX37 (T1090A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2326239	NM_032656.4(DHX37):c.3265G>A (p.Gly1089Ser)	DHX37 (G1089S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3501683	NM_032656.4(DHX37):c.3262C>G (p.Pro1088Ala)	DHX37 (P1088A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1255483	NM_032656.4(DHX37):c.3242G>A (p.Arg1081Gln)	DHX37 (R1081Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GBenign
Select item 2358901	NM_032656.4(DHX37):c.3227A>C (p.Lys1076Thr)	DHX37 (K1076T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2709672	NM_032656.4(DHX37):c.3224G>A (p.Arg1075His)	DHX37 (R1075H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2110383	NM_032656.4(DHX37):c.3223C>T (p.Arg1075Cys)	DHX37 (R1075C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1342471	NM_032656.4(DHX37):c.3217-1G>T	DHX37	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies	GLikely pathogenic
Select item 2875638	NM_032656.4(DHX37):c.3217-18C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869188	NM_032656.4(DHX37):c.3216+15G>A	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978641	NM_032656.4(DHX37):c.3216+14C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971458	NM_032656.4(DHX37):c.3216+11C>G	DHX37	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2182100	NM_032656.4(DHX37):c.3216+3A>G	DHX37	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2783318	NM_032656.4(DHX37):c.3197G>A (p.Arg1066Gln)	DHX37 (R1066Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973552	NM_032656.4(DHX37):c.3196C>T (p.Arg1066Trp)	DHX37 (R1066W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1255484	NM_032656.4(DHX37):c.3195C>T (p.Ala1065=)	DHX37	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies +2 more	GBenign
Select item 2045021	NM_032656.4(DHX37):c.3186G>A (p.Lys1062=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1696961	NM_032656.4(DHX37):c.3185A>C (p.Lys1062Thr)	DHX37 (K1062T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043946	NM_032656.4(DHX37):c.3179G>A (p.Arg1060His)	DHX37 (R1060H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255128	NM_032656.4(DHX37):c.3178C>T (p.Arg1060Cys)	DHX37 (R1060C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1975266	NM_032656.4(DHX37):c.3178C>G (p.Arg1060Gly)	DHX37 (R1060G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2512386	NM_032656.4(DHX37):c.3151G>A (p.Glu1051Lys)	DHX37 (E1051K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2867321	NM_032656.4(DHX37):c.3150C>T (p.Ile1050=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976864	NM_032656.4(DHX37):c.3143C>G (p.Pro1048Arg)	DHX37 (P1048R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082273	NM_032656.4(DHX37):c.3127G>A (p.Val1043Met)	DHX37 (V1043M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540958	NM_032656.4(DHX37):c.3127G>C (p.Val1043Leu)	DHX37 (V1043L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3388845	NM_032656.4(DHX37):c.3126C>T (p.Arg1042=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200681	NM_032656.4(DHX37):c.3125G>A (p.Arg1042His)	DHX37 (R1042H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2066455	NM_032656.4(DHX37):c.3122-11C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2061088	NM_032656.4(DHX37):c.3121+15T>C	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867433	NM_032656.4(DHX37):c.3121+13A>G	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3501678	NM_032656.4(DHX37):c.3107G>A (p.Arg1036Gln)	DHX37 (R1036Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675520	NM_032656.4(DHX37):c.3092G>A (p.Arg1031Gln)	DHX37 (R1031Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1917940	NM_032656.4(DHX37):c.3089G>A (p.Gly1030Glu)	DHX37 (G1030E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3501671	NM_032656.4(DHX37):c.3086G>A (p.Arg1029Gln)	DHX37 (R1029Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599923	NM_032656.4(DHX37):c.3086G>C (p.Arg1029Pro)	DHX37 (R1029P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098048	NM_032656.4(DHX37):c.3084G>A (p.Glu1028=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2161758	NM_032656.4(DHX37):c.3082G>A (p.Glu1028Lys)	DHX37 (E1028K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2067915	NM_032656.4(DHX37):c.3081C>T (p.Pro1027=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168184	NM_032656.4(DHX37):c.3078C>T (p.Cys1026=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914752	NM_032656.4(DHX37):c.3061C>A (p.Pro1021Thr)	DHX37 (P1021T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3355395	NM_032656.4(DHX37):c.3050C>T (p.Pro1017Leu)	DHX37 (P1017L)	Single nucleotide variant (missense variant)	DHX37-related disorder	GUncertain significance
Select item 2090317	NM_032656.4(DHX37):c.3046A>G (p.Lys1016Glu)	DHX37 (K1016E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684970	NM_032656.4(DHX37):c.3045C>G (p.Asp1015Glu)	DHX37 (D1015E)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3501686	NM_032656.4(DHX37):c.3037C>A (p.Gln1013Lys)	DHX37 (Q1013K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 724504	NM_032656.4(DHX37):c.3019C>G (p.Leu1007Val)	DHX37 (L1007V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2049434	NM_032656.4(DHX37):c.2995G>A (p.Val999Met)	DHX37 (V999M)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2044172	NM_032656.4(DHX37):c.2994C>T (p.Ser998=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2712684	NM_032656.4(DHX37):c.2985C>T (p.Gly995=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1318584	NM_032656.4(DHX37):c.2984G>C (p.Gly995Ala)	DHX37 (G995A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131633	NM_032656.4(DHX37):c.2984-3del	DHX37	Deletion (intron variant)	not provided	GBenign
Select item 2051231	NM_032656.4(DHX37):c.2984-10C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868400	NM_032656.4(DHX37):c.2983+14C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978911	NM_032656.4(DHX37):c.2983+5C>T	DHX37	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1030047	NM_032656.4(DHX37):c.2956G>A (p.Val986Met)	DHX37 (V986M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1972311	NM_032656.4(DHX37):c.2955C>G (p.Ile985Met)	DHX37 (I985M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720438	NM_032656.4(DHX37):c.2931C>T (p.Pro977=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3082272	NM_032656.4(DHX37):c.2929C>T (p.Pro977Ser)	DHX37 (P977S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189033	NM_032656.4(DHX37):c.2911G>A (p.Val971Ile)	DHX37 (V971I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1710815	NM_032656.4(DHX37):c.2905A>G (p.Ser969Gly)	DHX37 (S969G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3082271	NM_032656.4(DHX37):c.2884G>A (p.Asp962Asn)	DHX37 (D962N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2074191	NM_032656.4(DHX37):c.2883C>T (p.Asp961=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973847	NM_032656.4(DHX37):c.2880C>T (p.Leu960=)	DHX37	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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