Related gene-specific medical variations for Gene (Select 2995) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247492	NC_000002.11:g.(?_127451420)_(127451543_?)dup	GYPC	Duplication	not provided	GUncertain significance
Select item 3103379	NM_002101.5(GYPC):c.46C>T (p.Leu16Phe)	GYPC, LOC129934706 (L16F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2689192	NM_002101.5(GYPC):c.257G>T (p.Arg86Leu)	GYPC (R65L +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689191	NM_002101.5(GYPC):c.262A>C (p.Lys88Gln)	GYPC (K67Q +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689190	NM_002101.5(GYPC):c.214G>A (p.Val72Ile)	GYPC (V51I +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689189	NM_002101.5(GYPC):c.198T>G (p.Ile66Met)	GYPC (I45M +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689188	NM_002101.5(GYPC):c.254A>T (p.Tyr85Phe)	GYPC (Y64F +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689186	NM_002101.5(GYPC):c.134C>G (p.Pro45Arg)	GYPC (P24R +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689185	NM_002101.5(GYPC):c.244C>T (p.Arg82Cys)	GYPC (R61C +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689184	NM_002101.5(GYPC):c.109C>A (p.Pro37Thr)	GYPC (P16T +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 2689183	NM_002101.5(GYPC):c.44G>A (p.Ser15Asn)	GYPC, LOC129934706 (S15N)	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, Gerbich system	GUncertain significance
Select item 2432352	NM_002101.5(GYPC):c.194T>C (p.Val65Ala)	GYPC (V44A +2 more)	Single nucleotide variant (missense variant)	Blood group, Gerbich system	GUncertain significance
Select item 1340940	GRCh37/hg19 2q14.3(chr2:127368496-127436690)x1	GYPC	Copy number loss	not provided	GUncertain significance
Select item 814302	GRCh37/hg19 2q14.3(chr2:126675454-127424849)x3	GYPC	Copy number gain	not provided	GUncertain significance
Select item 562625	GRCh37/hg19 2q14.3(chr2:126426023-127463593)x3	GYPC	Copy number gain	not provided	GUncertain significance
Select item 562593	GRCh37/hg19 2q14.3(chr2:127188038-127725566)x1	GYPC	Copy number loss	not provided	GUncertain significance
Select item 443674	GRCh37/hg19 2q14.3(chr2:126675454-127511804)x3	GYPC	Copy number gain	See cases	GUncertain significance
Select item 17727	NM_002101.5(GYPC):c.40C>T (p.Leu14Phe)	GYPC, LOC129934706 (L14F)	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, Gerbich system	GAffects
Select item 17726	NM_002101.5(GYPC):c.23A>G (p.Asn8Ser)	GYPC, LOC129934706 (N8S)	Single nucleotide variant (5 prime UTR variant +1 more)	Blood group, Gerbich system	GAffects