AASDH[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC116158492 +360 more	Copy number loss	Piebaldism	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 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	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 2303093	NM_181806.4(AASDH):c.3223G>C (p.Glu1075Gln)	AASDH (E698Q +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2390602	NM_181806.4(AASDH):c.2641T>G (p.Leu881Val)	AASDH (L396V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2273511	NM_181806.4(AASDH):c.2259G>A (p.Met753Ile)	AASDH (M753I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282715	NM_181806.4(AASDH):c.2242A>T (p.Ile748Leu)	AASDH (I595L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2390601	NM_181806.4(AASDH):c.2209G>A (p.Val737Ile)	AASDH (V637I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340788	NM_181806.4(AASDH):c.2201C>T (p.Pro734Leu)	AASDH (P249L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325848	NM_181806.4(AASDH):c.1961A>C (p.Glu654Ala)	AASDH (E169A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305295	NM_181806.4(AASDH):c.1742T>G (p.Leu581Arg)	AASDH (L481R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283913	NM_181806.4(AASDH):c.1636G>C (p.Glu546Gln)	AASDH (E546Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248862	NM_181806.4(AASDH):c.1489A>G (p.Ile497Val)	AASDH (I12V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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 2654767	NM_181806.4(AASDH):c.963G>A (p.Ala321=)	AASDH	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2211235	NM_181806.4(AASDH):c.835T>G (p.Ser279Ala)	AASDH (S179A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614417	NM_181806.4(AASDH):c.772T>A (p.Ser258Thr)	AASDH (S258T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2604439	NM_181806.4(AASDH):c.459G>T (p.Leu153Phe)	AASDH (L153F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2570032	NM_181806.4(AASDH):c.335A>G (p.Glu112Gly)	AASDH (E112G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357074	NM_181806.4(AASDH):c.280C>T (p.Pro94Ser)	AASDH (P94S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286000	NM_181806.4(AASDH):c.218C>A (p.Ser73Tyr)	AASDH (S73Y)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2385491	NM_181806.4(AASDH):c.50G>A (p.Arg17Lys)	AASDH (R17K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2472168	NM_181806.4(AASDH):c.35C>G (p.Ser12Cys)	AASDH (S12C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	TMA16, CXCL1 +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 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
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 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	AASDH, ABLIM2 +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	SCRG1, SDAD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	CCKAR, CWH43 +744 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63