"Ambry Genetics"[submitter] AND "HCFC1R1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2550330	NM_017885.4(HCFC1R1):c.344G>A (p.Arg115His)	HCFC1R1 (R96H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104459	NM_017885.4(HCFC1R1):c.317C>T (p.Pro106Leu)	HCFC1R1 (P104L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252637	NM_017885.4(HCFC1R1):c.311G>A (p.Arg104His)	HCFC1R1 (R85H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384126	NM_017885.4(HCFC1R1):c.299T>C (p.Leu100Pro)	HCFC1R1 (L81P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402808	NM_017885.4(HCFC1R1):c.250A>G (p.Met84Val)	HCFC1R1 (M44V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292654	NM_017885.4(HCFC1R1):c.179C>T (p.Ser60Phe)	HCFC1R1, LOC130058290 (S41F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616223	NM_017885.4(HCFC1R1):c.118C>T (p.Pro40Ser)	HCFC1R1 (P40S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594659	NM_017885.4(HCFC1R1):c.103C>G (p.Leu35Val)	HCFC1R1 (L35V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104460	NM_017885.4(HCFC1R1):c.44C>T (p.Ala15Val)	HCFC1R1 (A15V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance