ClinVar for Gene (Select 132949) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141542	NM_181806.4(AASDH):c.765T>G (p.Ser255Arg)	AASDH (S102R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141515	NM_181806.4(AASDH):c.608G>A (p.Gly203Glu)	AASDH (G103E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3141301	NM_181806.4(AASDH):c.3260T>C (p.Val1087Ala)	AASDH (V1126A +5 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3141221	NM_181806.4(AASDH):c.3153A>C (p.Glu1051Asp)	AASDH (E1090D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141178	NM_181806.4(AASDH):c.3092A>G (p.Asn1031Ser)	AASDH (N878S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141147	NM_181806.4(AASDH):c.3071C>T (p.Pro1024Leu)	AASDH (P1024L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141065	NM_181806.4(AASDH):c.2864G>C (p.Cys955Ser)	AASDH (C470S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3141031	NM_181806.4(AASDH):c.2851A>G (p.Ile951Val)	AASDH (I466V +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3140908	NM_181806.4(AASDH):c.2704C>T (p.Pro902Ser)	AASDH (S694F +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140796	NM_181806.4(AASDH):c.2350A>G (p.Thr784Ala)	AASDH (T299A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140629	NM_181806.4(AASDH):c.2184T>G (p.Ile728Met)	AASDH (I351M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140604	NM_181806.4(AASDH):c.2176G>T (p.Val726Phe)	AASDH (V241F +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140580	NM_181806.4(AASDH):c.2007C>G (p.Phe669Leu)	AASDH (F669L +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3140518	NM_181806.4(AASDH):c.1819G>C (p.Val607Leu)	AASDH (V122L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140435	NM_181806.4(AASDH):c.1543G>A (p.Val515Ile)	AASDH (V30I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140372	NM_181806.4(AASDH):c.1405G>A (p.Val469Met)	AASDH (V316M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2654768	NM_181806.4(AASDH):c.668G>T (p.Arg223Leu)	AASDH (R123L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2654767	NM_181806.4(AASDH):c.963G>A (p.Ala321=)	AASDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2654766	NM_181806.4(AASDH):c.973T>C (p.Leu325=)	AASDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2614417	NM_181806.4(AASDH):c.772T>A (p.Ser258Thr)	AASDH (S258T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604439	NM_181806.4(AASDH):c.459G>T (p.Leu153Phe)	AASDH (L153F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598373	NM_181806.4(AASDH):c.3190C>T (p.Pro1064Ser)	AASDH (P1103S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2570032	NM_181806.4(AASDH):c.335A>G (p.Glu112Gly)	AASDH (E112G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2567360	NM_181806.4(AASDH):c.1096A>C (p.Thr366Pro)	AASDH (T213P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554224	NM_181806.4(AASDH):c.3152A>C (p.Glu1051Ala)	AASDH (E951A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551371	NM_181806.4(AASDH):c.386A>G (p.Tyr129Cys)	AASDH (Y29C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527771	NM_181806.4(AASDH):c.2939T>C (p.Phe980Ser)	AASDH (F827S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523413	NM_181806.4(AASDH):c.2612T>C (p.Ile871Thr)	AASDH (I386T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485827	NM_181806.4(AASDH):c.1018A>C (p.Ile340Leu)	AASDH (I187L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481748	NM_181806.4(AASDH):c.368A>G (p.His123Arg)	AASDH (H123R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472168	NM_181806.4(AASDH):c.35C>G (p.Ser12Cys)	AASDH (S12C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 2390602	NM_181806.4(AASDH):c.2641T>G (p.Leu881Val)	AASDH (L396V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390601	NM_181806.4(AASDH):c.2209G>A (p.Val737Ile)	AASDH (V637I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385491	NM_181806.4(AASDH):c.50G>A (p.Arg17Lys)	AASDH (R17K)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2357074	NM_181806.4(AASDH):c.280C>T (p.Pro94Ser)	AASDH (P94S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2343881	NM_181806.4(AASDH):c.1104A>T (p.Lys368Asn)	AASDH (K268N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341591	NM_181806.4(AASDH):c.1174T>C (p.Phe392Leu)	AASDH (F392L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340788	NM_181806.4(AASDH):c.2201C>T (p.Pro734Leu)	AASDH (P249L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338446	NM_181806.4(AASDH):c.1190G>A (p.Gly397Asp)	AASDH (G297D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332207	NM_181806.4(AASDH):c.3106A>G (p.Met1036Val)	AASDH (M883V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325848	NM_181806.4(AASDH):c.1961A>C (p.Glu654Ala)	AASDH (E169A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315907	NM_181806.4(AASDH):c.2827T>C (p.Ser943Pro)	AASDH (S943P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305295	NM_181806.4(AASDH):c.1742T>G (p.Leu581Arg)	AASDH (L481R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304647	NM_181806.4(AASDH):c.3038A>G (p.Lys1013Arg)	AASDH (K636R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303093	NM_181806.4(AASDH):c.3223G>C (p.Glu1075Gln)	AASDH (E698Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286000	NM_181806.4(AASDH):c.218C>A (p.Ser73Tyr)	AASDH (S73Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2283913	NM_181806.4(AASDH):c.1636G>C (p.Glu546Gln)	AASDH (E546Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282715	NM_181806.4(AASDH):c.2242A>T (p.Ile748Leu)	AASDH (I595L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273511	NM_181806.4(AASDH):c.2259G>A (p.Met753Ile)	AASDH (M753I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248862	NM_181806.4(AASDH):c.1489A>G (p.Ile497Val)	AASDH (I12V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248556	NM_181806.4(AASDH):c.2815C>G (p.Pro939Ala)	AASDH (P454A +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242398	NM_181806.4(AASDH):c.2632G>A (p.Ala878Thr)	AASDH (A393T +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240745	NM_181806.4(AASDH):c.424T>C (p.Phe142Leu)	AASDH (F142L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2236714	NM_181806.4(AASDH):c.1241A>G (p.Asp414Gly)	AASDH (D37G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229495	NM_181806.4(AASDH):c.568C>G (p.His190Asp)	AASDH (H37D +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2211235	NM_181806.4(AASDH):c.835T>G (p.Ser279Ala)	AASDH (S179A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	SPINK2, SRP72 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1270670	NM_181806.4(AASDH):c.181A>G (p.Ile61Val)	AASDH (I61V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 814558	GRCh37/hg19 4q12(chr4:57067953-57957651)x3	SRP72, SPINK2 +11 more	Copy number gain	not provided	GUncertain significance
Select item 562916	GRCh37/hg19 4q12(chr4:57036491-57206774)x1	CRACD, AASDH	Copy number loss	not provided	GUncertain significance
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 148576	GRCh38/hg38 4q12(chr4:56248102-57218522)x4	AASDH, ARL9 +39 more	Copy number gain	See cases	GUncertain significance
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic

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Items: 79