Related gene-specific medical variations for Gene (Select 4636) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319909	NM_032219.4(SLC49A3):c.1634C>A (p.Pro545Gln)	MYL5, SLC49A3 (P426Q +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3297576	NM_002477.2(MYL5):c.254T>A (p.Phe85Tyr)	MYL5, SLC49A3 (F85Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297575	NM_002477.2(MYL5):c.106A>C (p.Lys36Gln)	MYL5, SLC49A3 (K36Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3164979	NM_032219.4(SLC49A3):c.1634C>G (p.Pro545Arg)	MYL5, SLC49A3 (P426R +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3159471	NM_002477.2(MYL5):c.458C>T (p.Ala153Val)	LOC129991953, MYL5 +1 more (A153V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3159439	NM_002477.2(MYL5):c.208G>A (p.Asp70Asn)	MYL5, SLC49A3 (D70N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159431	NM_002477.2(MYL5):c.175T>C (p.Tyr59His)	MYL5, SLC49A3 (Y59H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589271	NM_002477.2(MYL5):c.457G>C (p.Ala153Pro)	LOC129991953, MYL5 +1 more (A112P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559261	NM_002477.2(MYL5):c.200T>C (p.Val67Ala)	MYL5, SLC49A3 (V26A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556204	NM_002477.2(MYL5):c.457G>A (p.Ala153Thr)	LOC129991953, MYL5 +1 more (A112T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551427	NM_002477.2(MYL5):c.322G>A (p.Ala108Thr)	MYL5, SLC49A3 (A108T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530405	NM_002477.2(MYL5):c.25A>G (p.Lys9Glu)	MYL5, SLC49A3 (K9E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513218	NM_002477.2(MYL5):c.344A>T (p.Asp115Val)	MYL5, SLC49A3 (D74V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482107	NM_002477.2(MYL5):c.34G>A (p.Gly12Ser)	MYL5, SLC49A3 (G12S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455448	NM_002477.2(MYL5):c.388A>G (p.Met130Val)	MYL5, SLC49A3 (M130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370560	NM_002477.2(MYL5):c.16A>G (p.Thr6Ala)	MYL5, SLC49A3 (T6A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370334	NM_002477.2(MYL5):c.323C>T (p.Ala108Val)	MYL5, SLC49A3 (A108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344651	NM_002477.2(MYL5):c.479C>T (p.Ala160Val)	MYL5, SLC49A3 (A160V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342656	NM_002477.2(MYL5):c.239C>T (p.Ser80Leu)	MYL5, SLC49A3 (S80L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209856	NM_002477.2(MYL5):c.137G>A (p.Arg46Gln)	MYL5, SLC49A3 (R5Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 20