ADD1[gene] and "single gene"[properties] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916553	NM_001354761.2(ADD1):c.1A>G (p.Met1Val)	ADD1 (M1V)	Single nucleotide variant (missense variant +1 more)	Tracheoesophageal fistula	GLikely pathogenic
Select item 2469032	NM_001354761.2(ADD1):c.28G>A (p.Val10Met)	ADD1 (V10M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583020	NM_001354761.2(ADD1):c.36A>C (p.Ser12=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790308	NM_001354761.2(ADD1):c.45G>T (p.Pro15=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758783	NM_001354761.2(ADD1):c.75C>T (p.Phe25=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568553	NM_001354761.2(ADD1):c.80G>T (p.Arg27Leu)	ADD1 (R27L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216404	NM_001354761.2(ADD1):c.98C>T (p.Pro33Leu)	ADD1 (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033151	NM_001354761.2(ADD1):c.129A>G (p.Pro43=)	ADD1	Single nucleotide variant (synonymous variant)	ADD1-related disorder	GLikely benign
Select item 2386756	NM_001354761.2(ADD1):c.302A>G (p.Asn101Ser)	ADD1 (N101S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493195	NM_001354761.2(ADD1):c.410C>T (p.Ala137Val)	ADD1 (A137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082706	NM_001354761.2(ADD1):c.500A>G (p.Asn167Ser)	ADD1 (N167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290417	NM_001354761.2(ADD1):c.506T>C (p.Ile169Thr)	ADD1 (I169T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340562	NM_001354761.2(ADD1):c.526G>A (p.Glu176Lys)	ADD1 (E176K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556049	NM_001354761.2(ADD1):c.529C>G (p.Gln177Glu)	ADD1 (Q177E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245367	NM_001354761.2(ADD1):c.691C>T (p.Arg231Cys)	ADD1 (R231C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293516	NM_001354761.2(ADD1):c.695C>T (p.Pro232Leu)	ADD1 (P232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789993	NM_001354761.2(ADD1):c.702G>A (p.Val234=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082731	NM_001354761.2(ADD1):c.709G>A (p.Val237Ile)	ADD1 (V237I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2466675	NM_001354761.2(ADD1):c.772A>G (p.Ile258Val)	ADD1 (I258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790309	NM_001354761.2(ADD1):c.837T>C (p.Asp279=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3082741	NM_001354761.2(ADD1):c.928A>T (p.Ser310Cys)	ADD1 (S310C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082742	NM_001354761.2(ADD1):c.950A>C (p.Tyr317Ser)	ADD1 (Y317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232664	NM_001354761.2(ADD1):c.1060C>T (p.Arg354Cys)	ADD1 (R354C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082656	NM_001354761.2(ADD1):c.1087G>T (p.Gly363Cys)	ADD1 (G363C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082659	NM_001354761.2(ADD1):c.1096T>C (p.Ser366Pro)	ADD1 (S366P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524385	NM_001354761.2(ADD1):c.1108T>C (p.Trp370Arg)	ADD1 (W370R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734964	NM_001354761.2(ADD1):c.1152C>T (p.Leu384=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790310	NM_001354761.2(ADD1):c.1194T>A (p.Pro398=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2263486	NM_001354761.2(ADD1):c.1225G>A (p.Asp409Asn)	ADD1 (D409N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082666	NM_001354761.2(ADD1):c.1273G>A (p.Gly425Ser)	ADD1 (G425S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478761	NM_001354761.2(ADD1):c.1295C>G (p.Pro432Arg)	ADD1 (P432R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790311	NM_001354761.2(ADD1):c.1362C>T (p.Asp454=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 18274	NM_001354761.2(ADD1):c.1378G>T (p.Gly460Trp)	ADD1 (G460W)	Single nucleotide variant (missense variant)	hydrochlorothiazide response - Efficacy	Gdrug response
Select item 2296562	NM_001354761.2(ADD1):c.1403C>T (p.Ser468Leu)	ADD1 (S468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731810	NM_001354761.2(ADD1):c.1632C>T (p.Asp544=)	ADD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2372806	NM_001354761.2(ADD1):c.1633A>G (p.Ile545Val)	ADD1 (I514V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710319	NM_001354761.2(ADD1):c.1675G>A (p.Val559Met)	ADD1 (V528M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2596468	NM_001354761.2(ADD1):c.1690C>T (p.Leu564Phe)	ADD1 (L564F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470659	NM_001354761.2(ADD1):c.1912C>T (p.Arg638Cys)	ADD1 (R576C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082686	NM_001354761.2(ADD1):c.1960G>A (p.Glu654Lys)	ADD1 (E623K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082688	NM_001354761.2(ADD1):c.1967G>A (p.Arg656Lys)	ADD1 (R625K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082691	NM_001354761.2(ADD1):c.2003C>T (p.Ala668Val)	ADD1 (A637V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082694	NM_001354761.2(ADD1):c.2047+541G>T	ADD1 (A625S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 43