Related gene-specific medical variations for Gene (Select 2774) - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267067	NM_020412.5(CHMP1B):c.346G>T (p.Asp116Tyr)	CHMP1B, GNAL +1 more (D116Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267066	NM_020412.5(CHMP1B):c.465A>C (p.Glu155Asp)	CHMP1B, GNAL +1 more (E155D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267065	NM_020412.5(CHMP1B):c.506C>T (p.Pro169Leu)	CHMP1B, GNAL +1 more (P169L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267064	NM_020412.5(CHMP1B):c.161A>G (p.Asn54Ser)	CHMP1B, GNAL (N54S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144438	NM_020412.5(CHMP1B):c.91G>C (p.Ala31Pro)	CHMP1B, GNAL (A31P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144437	NM_020412.5(CHMP1B):c.396G>A (p.Met132Ile)	CHMP1B, GNAL +1 more (M132I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144436	NM_020412.5(CHMP1B):c.316A>G (p.Met106Val)	CHMP1B, GNAL (M106V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144435	NM_020412.5(CHMP1B):c.305C>T (p.Thr102Ile)	GNAL, LOC130062186 +1 more (T102I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144434	NM_020412.5(CHMP1B):c.185C>A (p.Ala62Glu)	CHMP1B, GNAL (A62E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144432	NM_020412.5(CHMP1B):c.170G>C (p.Arg57Pro)	CHMP1B, GNAL (R57P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3067873	NM_182978.4(GNAL):c.910G>A (p.Asp304Asn)	GNAL (D20N +2 more)	Single nucleotide variant (missense variant)	Dystonia 25	GLikely pathogenic
Select item 2611687	NM_020412.5(CHMP1B):c.175A>G (p.Lys59Glu)	CHMP1B, GNAL (K59E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610897	NM_023075.6(MPPE1):c.1181A>G (p.Lys394Arg)	GNAL, MPPE1 (K331R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2536251	NM_023075.6(MPPE1):c.1085G>A (p.Cys362Tyr)	GNAL, MPPE1 (C340Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2535880	NM_020412.5(CHMP1B):c.217G>T (p.Asp73Tyr)	CHMP1B, GNAL (D73Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528090	NM_020412.5(CHMP1B):c.595G>A (p.Val199Met)	CHMP1B, GNAL +1 more (V199M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516222	NM_023075.6(MPPE1):c.1055C>T (p.Pro352Leu)	GNAL, MPPE1 (P289L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2515067	NM_023075.6(MPPE1):c.1117C>T (p.Leu373Phe)	GNAL, MPPE1 (L373F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2513319	NM_020412.5(CHMP1B):c.445G>A (p.Val149Met)	CHMP1B, GNAL +1 more (V149M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508117	NM_020412.5(CHMP1B):c.127G>A (p.Gly43Ser)	CHMP1B, GNAL (G43S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463143	NM_020412.5(CHMP1B):c.89A>G (p.Lys30Arg)	CHMP1B, GNAL (K30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2429426	NM_182978.4(GNAL):c.806C>G (p.Ser269Cys)	GNAL (S192C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2396490	NM_023075.6(MPPE1):c.1177C>T (p.Arg393Cys)	GNAL, MPPE1 (R371C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2387978	NM_023075.6(MPPE1):c.1057C>T (p.Arg353Cys)	GNAL, MPPE1 (R331C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2361916	NM_023075.6(MPPE1):c.1019C>T (p.Thr340Met)	GNAL, MPPE1 (T277M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2342865	NM_023075.6(MPPE1):c.1182G>C (p.Lys394Asn)	GNAL, MPPE1 (K331N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2265746	NM_020412.5(CHMP1B):c.21C>G (p.His7Gln)	CHMP1B, GNAL (H7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215051	NM_020412.5(CHMP1B):c.143C>G (p.Ala48Gly)	CHMP1B, GNAL (A48G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212845	NM_020412.5(CHMP1B):c.269A>C (p.Lys90Thr)	CHMP1B, GNAL +1 more (K90T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1013393	NM_020412.5(CHMP1B):c.540G>T (p.Val180=)	CHMP1B, GNAL +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709152	NM_020412.5(CHMP1B):c.303G>A (p.Ala101=)	CHMP1B, GNAL +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 425150	NM_182978.4(GNAL):c.429C>A (p.His143Gln)	GNAL (H143Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374434	NM_182978.4(GNAL):c.462_463del (p.Lys155fs)	GNAL (K78fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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Links from Gene

Items: 33