Related gene-specific medical variations for Gene (Select 1605) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064933	NM_004393.6(DAG1):c.1915G>A (p.Asp639Asn)	DAG1 (D639N)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P	GUncertain significance
Select item 2688916	NM_004393.6(DAG1):c.2590C>T (p.Gln864Ter)	DAG1 (Q864*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2688915	NM_004393.6(DAG1):c.2560C>T (p.Arg854Trp)	DAG1 (R854W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688914	NM_004393.6(DAG1):c.2022C>G (p.Ile674Met)	DAG1 (I674M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688913	NM_004393.6(DAG1):c.1486C>T (p.Arg496Cys)	DAG1 (R496C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688912	NM_004393.6(DAG1):c.161T>C (p.Leu54Pro)	DAG1 (L54P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688911	NM_004393.6(DAG1):c.2319C>G (p.Ile773Met)	DAG1 (I773M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688910	NM_004393.6(DAG1):c.375T>A (p.Asp125Glu)	DAG1 (D125E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2688909	NM_004393.6(DAG1):c.1985A>G (p.Asn662Ser)	DAG1 (N662S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440705	NM_004393.6(DAG1):c.898G>A (p.Ala300Thr)	DAG1 (A300T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440704	NM_004393.6(DAG1):c.724A>G (p.Met242Val)	DAG1 (M242V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440703	NM_004393.6(DAG1):c.425G>A (p.Gly142Glu)	DAG1 (G142E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440701	NM_004393.6(DAG1):c.1462C>T (p.Pro488Ser)	DAG1 (P488S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440700	NM_004393.6(DAG1):c.1588A>G (p.Thr530Ala)	DAG1 (T530A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440699	NM_004393.6(DAG1):c.947C>G (p.Ala316Gly)	DAG1 (A316G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440698	NM_004393.6(DAG1):c.188C>T (p.Thr63Ile)	DAG1 (T63I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440697	NM_004393.6(DAG1):c.226C>T (p.Arg76Cys)	DAG1 (R76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440696	NM_004393.6(DAG1):c.2639C>A (p.Pro880His)	DAG1 (P880H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440695	NM_004393.6(DAG1):c.2506G>A (p.Val836Met)	DAG1 (V836M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440694	NM_004393.6(DAG1):c.2308A>G (p.Ile770Val)	DAG1 (I770V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440693	NM_004393.6(DAG1):c.836C>G (p.Ala279Gly)	DAG1 (A279G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440692	NM_004393.6(DAG1):c.221T>C (p.Val74Ala)	DAG1 (V74A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440690	NM_004393.6(DAG1):c.1946A>G (p.Asn649Ser)	DAG1 (N649S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440689	NM_004393.6(DAG1):c.1808G>A (p.Arg603Lys)	DAG1 (R603K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440688	NM_004393.6(DAG1):c.1639G>T (p.Gly547Cys)	DAG1 (G547C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440687	NM_004393.6(DAG1):c.1720G>A (p.Glu574Lys)	DAG1 (E574K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440686	NM_004393.6(DAG1):c.98G>C (p.Ser33Thr)	DAG1 (S33T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440684	NM_004393.6(DAG1):c.285+1dup	DAG1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2440683	NM_004393.6(DAG1):c.1728C>A (p.Phe576Leu)	DAG1 (F576L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440682	NM_004393.6(DAG1):c.2486C>T (p.Pro829Leu)	DAG1 (P829L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440681	NM_004393.6(DAG1):c.2272G>A (p.Val758Met)	DAG1 (V758M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440680	NM_004393.6(DAG1):c.945T>G (p.His315Gln)	DAG1 (H315Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440679	NM_004393.6(DAG1):c.1985A>C (p.Asn662Thr)	DAG1 (N662T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440678	NM_004393.6(DAG1):c.2041A>T (p.Ile681Phe)	DAG1 (I681F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440677	NM_004393.6(DAG1):c.284A>G (p.Lys95Arg)	DAG1 (K95R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319291	NM_004393.6(DAG1):c.1838_1839del (p.Val613fs)	DAG1 (V613fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 1256126	NM_004393.6(DAG1):c.1166G>A (p.Arg389Gln)	DAG1 (R389Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1237933	NM_001177643.3(DAG1):c.-117+1024T>G	DAG1, LOC129936758	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 983418	NM_001177643.3(DAG1):c.-117+1G>T	DAG1	Single nucleotide variant (splice donor variant)	Intellectual disability	GUncertain significance
Select item 931246	NM_004393.6(DAG1):c.1795C>T (p.Pro599Ser)	DAG1 (P599S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9	GUncertain significance
Select item 382769	NM_004393.6(DAG1):c.-130C>T	DAG1, LOC129936758	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 380775	NM_004393.6(DAG1):c.-136G>A	DAG1, LOC129936758	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 31761	NM_004393.6(DAG1):c.-116-291T>G	DAG1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 31760	NM_004393.6(DAG1):c.*2262=	DAG1	Single nucleotide variant (no sequence alteration)	not provided	Gnot provided
Select item 31759	NM_004393.6(DAG1):c.*1508A>G	DAG1	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 31758	NM_004393.6(DAG1):c.*830G>T	DAG1	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided

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Links from Gene

Items: 46