"Ambry Genetics"[submitter] AND "AASDH"[gene] - ClinVar

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

Search results

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 3263423	NM_181806.4(AASDH):c.2858T>C (p.Ile953Thr)	AASDH (I953T +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 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 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 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 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 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 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 3264513	NM_181806.4(AASDH):c.2547G>A (p.Met849Ile)	AASDH (M472I +5 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 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 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 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 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 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 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 3263488	NM_181806.4(AASDH):c.1836A>T (p.Glu612Asp)	AASDH (E127D +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3264221	NM_181806.4(AASDH):c.1781G>A (p.Arg594Gln)	AASDH (R494Q +4 more)	Single nucleotide variant (missense variant)	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 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 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 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 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 3263837	NM_181806.4(AASDH):c.1367T>C (p.Ile456Thr)	AASDH (I356T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263657	NM_181806.4(AASDH):c.1346G>A (p.Arg449His)	AASDH (R349H +3 more)	Single nucleotide variant (missense variant +1 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 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 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 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 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 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 3264408	NM_181806.4(AASDH):c.982C>T (p.Leu328Phe)	AASDH (L228F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263575	NM_181806.4(AASDH):c.938G>A (p.Arg313Gln)	AASDH (R160Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 3264314	NM_181806.4(AASDH):c.679G>C (p.Asp227His)	AASDH (D127H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3264045	NM_181806.4(AASDH):c.656T>C (p.Ile219Thr)	AASDH (I119T +2 more)	Single nucleotide variant (missense variant +2 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 2229495	NM_181806.4(AASDH):c.568C>G (p.His190Asp)	AASDH (H37D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3264143	NM_181806.4(AASDH):c.500T>G (p.Ile167Arg)	AASDH (I14R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263735	NM_181806.4(AASDH):c.497A>C (p.Lys166Thr)	AASDH (K166T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3263943	NM_181806.4(AASDH):c.464T>G (p.Leu155Arg)	AASDH (L2R +2 more)	Single nucleotide variant (missense variant +2 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 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 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 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 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 2357074	NM_181806.4(AASDH):c.280C>T (p.Pro94Ser)	AASDH (P94S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2286000	NM_181806.4(AASDH):c.218C>A (p.Ser73Tyr)	AASDH (S73Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385491	NM_181806.4(AASDH):c.50G>A (p.Arg17Lys)	AASDH (R17K)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2472168	NM_181806.4(AASDH):c.35C>G (p.Ser12Cys)	AASDH (S12C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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: 66