GEMIN8[gene] and "single gene"[properties] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2600613	NM_001042479.2(GEMIN8):c.686G>A (p.Arg229Gln)	GEMIN8 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523416	NM_001042479.2(GEMIN8):c.652G>A (p.Ala218Thr)	GEMIN8 (A218T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376103	NM_001042479.2(GEMIN8):c.623G>A (p.Ser208Asn)	GEMIN8 (S208N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660035	NM_001042479.2(GEMIN8):c.555G>A (p.Ser185=)	GEMIN8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2594148	NM_001042479.2(GEMIN8):c.539G>A (p.Cys180Tyr)	GEMIN8 (C180Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2339759	NM_001042479.2(GEMIN8):c.520G>A (p.Ala174Thr)	GEMIN8 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238559	NM_001042479.2(GEMIN8):c.514G>A (p.Val172Met)	GEMIN8 (V172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538392	NM_001042479.2(GEMIN8):c.350C>G (p.Ser117Cys)	GEMIN8 (S117C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382528	NM_001042479.2(GEMIN8):c.301C>T (p.Arg101Cys)	GEMIN8 (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281216	NM_001042479.2(GEMIN8):c.257A>C (p.Tyr86Ser)	GEMIN8 (Y86S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211364	NM_001042479.2(GEMIN8):c.230A>G (p.Tyr77Cys)	GEMIN8 (Y77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099403	NM_001042479.2(GEMIN8):c.212C>T (p.Ala71Val)	GEMIN8 (A71V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273750	NM_001042479.2(GEMIN8):c.199G>A (p.Asp67Asn)	GEMIN8 (D67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660036	NM_001042479.2(GEMIN8):c.192C>T (p.Ser64=)	GEMIN8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2327444	NM_001042479.2(GEMIN8):c.136G>A (p.Val46Met)	GEMIN8 (V46M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 787514	NM_001042479.2(GEMIN8):c.135C>G (p.Ala45=)	GEMIN8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719272	NM_001042479.2(GEMIN8):c.91G>T (p.Ala31Ser)	GEMIN8 (A31S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2660037	NM_001042479.2(GEMIN8):c.57G>A (p.Pro19=)	GEMIN8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2225892	NM_001042479.2(GEMIN8):c.26C>T (p.Ser9Leu)	GEMIN8 (S9L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745327	NM_001042479.2(GEMIN8):c.16-8T>C	GEMIN8	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 20