FCHSD2[gene] and "single gene"[properties] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3094129	NM_014824.3(FCHSD2):c.1369G>A (p.Asp457Asn)	FCHSD2 (D457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094128	NM_014824.3(FCHSD2):c.1368C>A (p.Phe456Leu)	FCHSD2 (F456L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094127	NM_014824.3(FCHSD2):c.1358T>C (p.Met453Thr)	FCHSD2 (M453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240664	NM_014824.3(FCHSD2):c.1335A>C (p.Glu445Asp)	FCHSD2 (E445D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240663	NM_014824.3(FCHSD2):c.1334A>G (p.Glu445Gly)	FCHSD2 (E445G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094126	NM_014824.3(FCHSD2):c.1324G>A (p.Glu442Lys)	FCHSD2 (E442K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094125	NM_014824.3(FCHSD2):c.1307C>T (p.Ser436Leu)	FCHSD2 (S436L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375919	NM_014824.3(FCHSD2):c.1262G>A (p.Arg421Gln)	FCHSD2 (R421Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411132	NM_014824.3(FCHSD2):c.1228A>G (p.Met410Val)	FCHSD2 (M410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368806	NM_014824.3(FCHSD2):c.1190A>G (p.Gln397Arg)	FCHSD2 (Q397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222519	NM_014824.3(FCHSD2):c.1172G>A (p.Arg391Gln)	FCHSD2 (R391Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786201	NM_014824.3(FCHSD2):c.1152T>C (p.Ile384=)	FCHSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3094124	NM_014824.3(FCHSD2):c.1148T>C (p.Ile383Thr)	FCHSD2 (I383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531855	NM_014824.3(FCHSD2):c.1069G>A (p.Ala357Thr)	FCHSD2 (A357T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094123	NM_014824.3(FCHSD2):c.1061G>T (p.Cys354Phe)	FCHSD2 (C354F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357574	NM_014824.3(FCHSD2):c.1060T>G (p.Cys354Gly)	FCHSD2 (C354G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282670	NM_014824.3(FCHSD2):c.1031A>G (p.His344Arg)	FCHSD2 (H344R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487288	NM_014824.3(FCHSD2):c.983C>T (p.Ala328Val)	FCHSD2 (A328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467341	NM_014824.3(FCHSD2):c.900G>C (p.Gln300His)	FCHSD2 (Q300H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588405	NM_014824.3(FCHSD2):c.886C>T (p.Pro296Ser)	FCHSD2 (P296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393787	NM_014824.3(FCHSD2):c.871G>A (p.Ala291Thr)	FCHSD2 (A291T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094137	NM_014824.3(FCHSD2):c.838G>A (p.Asp280Asn)	FCHSD2 (D280N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094136	NM_014824.3(FCHSD2):c.804G>T (p.Gln268His)	FCHSD2 (Q268H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316189	NM_014824.3(FCHSD2):c.760C>T (p.Arg254Trp)	FCHSD2 (R254W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228789	NM_014824.3(FCHSD2):c.647C>T (p.Ala216Val)	FCHSD2 (A216V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094135	NM_014824.3(FCHSD2):c.619G>A (p.Ala207Thr)	FCHSD2 (A207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279691	NM_014824.3(FCHSD2):c.419A>C (p.Glu140Ala)	FCHSD2 (E140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094134	NM_014824.3(FCHSD2):c.414A>T (p.Gln138His)	FCHSD2 (Q138H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710059	NM_014824.3(FCHSD2):c.385A>C (p.Arg129=)	FCHSD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2241546	NM_014824.3(FCHSD2):c.329A>G (p.Asn110Ser)	FCHSD2 (N110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325699	NM_014824.3(FCHSD2):c.253C>T (p.Pro85Ser)	FCHSD2 (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094132	NM_014824.3(FCHSD2):c.248T>C (p.Met83Thr)	FCHSD2 (M83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493812	NM_014824.3(FCHSD2):c.247A>T (p.Met83Leu)	FCHSD2 (M83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246356	NM_014824.3(FCHSD2):c.230G>A (p.Arg77Gln)	FCHSD2 (R77Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278365	NM_014824.3(FCHSD2):c.208C>T (p.Pro70Ser)	FCHSD2 (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 685585	GRCh37/hg19 11q13.4(chr11:72588717-72751067)x1	FCHSD2	Copy number loss	not provided	GUncertain significance

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Items: 36