ClinVar for Gene (Select 283303) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295857	NM_001164377.1(MRGPRG):c.251T>C (p.Leu84Pro)	MRGPRG, MRGPRG-AS1 (L84P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204519	NM_001164377.1(MRGPRG):c.97G>T (p.Val33Leu)	MRGPRG, MRGPRG-AS1 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204468	NM_001164377.1(MRGPRG):c.370G>A (p.Val124Ile)	MRGPRG, MRGPRG-AS1 (V124I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 3204458	NM_001164377.1(MRGPRG):c.197G>T (p.Gly66Val)	MRGPRG, MRGPRG-AS1 (G66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204451	NM_001164377.1(MRGPRG):c.194T>C (p.Val65Ala)	MRGPRG, MRGPRG-AS1 (V65A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204440	NM_001164377.1(MRGPRG):c.169G>T (p.Asp57Tyr)	MRGPRG, MRGPRG-AS1 (D57Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3204434	NM_001164377.1(MRGPRG):c.113G>A (p.Gly38Asp)	MRGPRG, MRGPRG-AS1 (G38D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621500	NM_001164377.1(MRGPRG):c.90C>A (p.Asn30Lys)	MRGPRG, MRGPRG-AS1 (N30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621132	NM_001164377.1(MRGPRG):c.77G>A (p.Gly26Glu)	MRGPRG, MRGPRG-AS1 (G26E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526019	NM_001164377.1(MRGPRG):c.350G>A (p.Arg117Gln)	MRGPRG, MRGPRG-AS1 (R117Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2495734	NM_001164377.1(MRGPRG):c.193G>A (p.Val65Met)	MRGPRG-AS1, MRGPRG (V65M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379449	NM_001164377.1(MRGPRG):c.119G>A (p.Arg40His)	MRGPRG, MRGPRG-AS1 (R40H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372182	NM_001164377.1(MRGPRG):c.329C>G (p.Pro110Arg)	MRGPRG, MRGPRG-AS1 (P110R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2353474	NM_001164377.1(MRGPRG):c.118C>T (p.Arg40Cys)	MRGPRG, MRGPRG-AS1 (R40C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316922	NM_001164377.1(MRGPRG):c.191G>T (p.Arg64Leu)	MRGPRG, MRGPRG-AS1 (R64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304921	NM_001164377.1(MRGPRG):c.196G>T (p.Gly66Cys)	MRGPRG, MRGPRG-AS1 (G66C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302886	NM_001164377.1(MRGPRG):c.80C>G (p.Pro27Arg)	MRGPRG, MRGPRG-AS1 (P27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247469	NM_001164377.1(MRGPRG):c.416T>G (p.Leu139Arg)	MRGPRG, MRGPRG-AS1 (L139R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2227071	NM_001164377.1(MRGPRG):c.374T>C (p.Leu125Pro)	MRGPRG, MRGPRG-AS1 (L125P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic

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Links from Gene

Items: 28