"Baylor Genetics"[submitter] AND "HCFC1"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028365	NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)	HCFC1 (S1900G)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1028364	NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)	HCFC1 (V1685M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1032310	NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)	HCFC1	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia with homocystinuria, type cblX	GConflicting classifications of pathogenicity
Select item 1028363	NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)	HCFC1 (H1431Y)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 1028362	NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)	HCFC1 (I1225T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX +1 more	GUncertain significance
Select item 1028361	NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)	HCFC1 (T566M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GUncertain significance
Select item 66984	NM_005334.3(HCFC1):c.344C>T (p.Ala115Val)	HCFC1 (A115V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia with homocystinuria, type cblX	GPathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 625653	GRCh37/hg19 Xq28(chrX:153174571-153609996)	ARHGAP4, EMD +12 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic