HCAR2[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538040	NM_177551.4(HCAR2):c.1066T>A (p.Ser356Thr)	HCAR2 (S356T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299022	NM_177551.4(HCAR2):c.1062C>A (p.Ser354Arg)	HCAR2 (S354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104444	NM_177551.4(HCAR2):c.973C>T (p.Arg325Cys)	HCAR2 (R325C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494853	NM_177551.4(HCAR2):c.960G>T (p.Glu320Asp)	HCAR2 (E320D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770415	NM_177551.4(HCAR2):c.951G>A (p.Met317Ile)	HCAR2 (M317I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2388608	NM_177551.4(HCAR2):c.874G>A (p.Val292Met)	HCAR2 (V292M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104442	NM_177551.4(HCAR2):c.871C>T (p.Pro291Ser)	HCAR2 (P291S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347556	NM_177551.4(HCAR2):c.812C>T (p.Ser271Leu)	HCAR2 (S271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283591	NM_177551.4(HCAR2):c.788C>T (p.Thr263Met)	HCAR2 (T263M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104441	NM_177551.4(HCAR2):c.752G>A (p.Arg251Gln)	HCAR2 (R251Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529477	NM_177551.4(HCAR2):c.730T>C (p.Phe244Leu)	HCAR2 (F244L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246288	NM_177551.4(HCAR2):c.715G>A (p.Val239Ile)	HCAR2 (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104440	NM_177551.4(HCAR2):c.675G>T (p.Lys225Asn)	HCAR2 (K225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283592	NM_177551.4(HCAR2):c.556T>A (p.Phe186Ile)	HCAR2 (F186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300901	NM_177551.4(HCAR2):c.554C>T (p.Thr185Ile)	HCAR2 (T185I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224333	NM_177551.4(HCAR2):c.517G>T (p.Gly173Cys)	HCAR2 (G173C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104439	NM_177551.4(HCAR2):c.478G>A (p.Val160Ile)	HCAR2 (V160I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104438	NM_177551.4(HCAR2):c.464C>T (p.Thr155Ile)	HCAR2 (T155I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104437	NM_177551.4(HCAR2):c.451C>A (p.Leu151Met)	HCAR2 (L151M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277858	NM_177551.4(HCAR2):c.414G>C (p.Lys138Asn)	HCAR2 (K138N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283589	NM_177551.4(HCAR2):c.403G>A (p.Ala135Thr)	HCAR2 (A135T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293120	NM_177551.4(HCAR2):c.351C>A (p.Phe117Leu)	HCAR2 (F117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283590	NM_177551.4(HCAR2):c.331C>T (p.Arg111Cys)	HCAR2 (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284145	NM_177551.4(HCAR2):c.246C>G (p.Phe82Leu)	HCAR2 (F82L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342580	NM_177551.4(HCAR2):c.203A>G (p.Asn68Ser)	HCAR2 (N68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389851	NM_177551.4(HCAR2):c.38T>C (p.Ile13Thr)	HCAR2 (I13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283593	NM_177551.4(HCAR2):c.25C>T (p.His9Tyr)	HCAR2 (H9Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224589	NM_177551.4(HCAR2):c.15T>G (p.His5Gln)	HCAR2 (H5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 394254	GRCh37/hg19 12q24.31(chr12:123185916-123187546)x3	HCAR2	Copy number gain	See cases	GBenign

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Items: 29