ClinVar for Gene (Select 2864) - ClinVar

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Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3278563	NM_005303.3(FFAR1):c.88G>A (p.Ala30Thr)	FFAR1 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278562	NM_005303.3(FFAR1):c.428G>A (p.Gly143Glu)	FFAR1 (G143E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278561	NM_005303.3(FFAR1):c.517G>A (p.Ala173Thr)	FFAR1 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278560	NM_005303.3(FFAR1):c.92C>T (p.Thr31Met)	FFAR1 (T31M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278558	NM_005303.3(FFAR1):c.575T>G (p.Phe192Cys)	FFAR1 (F192C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242311	GRCh37/hg19 19q13.11-13.12(chr19:35223021-36895699)x1	ALKBH6, APLP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 3094551	NM_005303.3(FFAR1):c.811C>T (p.Leu271Phe)	FFAR1 (L271F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094550	NM_005303.3(FFAR1):c.673G>A (p.Val225Met)	FFAR1 (V225M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094549	NM_005303.3(FFAR1):c.503C>T (p.Pro168Leu)	FFAR1 (P168L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094548	NM_005303.3(FFAR1):c.383C>A (p.Ala128Glu)	FFAR1 (A128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094547	NM_005303.3(FFAR1):c.290T>C (p.Leu97Pro)	FFAR1 (L97P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2590864	NM_005303.3(FFAR1):c.548G>A (p.Arg183His)	FFAR1 (R183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524871	NM_005303.3(FFAR1):c.881A>G (p.Gln294Arg)	FFAR1 (Q294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517520	NM_005303.3(FFAR1):c.653G>A (p.Arg218Gln)	FFAR1 (R218Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471766	NM_005303.3(FFAR1):c.620G>C (p.Arg207Pro)	FFAR1 (R207P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464803	NM_005303.3(FFAR1):c.103C>T (p.Arg35Trp)	FFAR1 (R35W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2393148	NM_005303.3(FFAR1):c.737C>T (p.Ala246Val)	FFAR1 (A246V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391272	NM_005303.3(FFAR1):c.778C>G (p.Leu260Val)	FFAR1 (L260V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383647	NM_005303.3(FFAR1):c.31C>G (p.Leu11Val)	FFAR1 (L11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380109	NM_005303.3(FFAR1):c.208G>A (p.Gly70Arg)	FFAR1 (G70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375674	NM_005303.3(FFAR1):c.376G>A (p.Val126Met)	FFAR1 (V126M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364530	NM_005303.3(FFAR1):c.230C>T (p.Ser77Leu)	FFAR1 (S77L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360953	NM_005303.3(FFAR1):c.539G>A (p.Gly180Asp)	FFAR1 (G180D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289121	NM_005303.3(FFAR1):c.848C>T (p.Pro283Leu)	FFAR1 (P283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237803	NM_005303.3(FFAR1):c.619C>T (p.Arg207Trp)	FFAR1 (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	ALKBH6, APLP1 +54 more	Deletion	Brugada syndrome 5	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816077	GRCh37/hg19 19q13.12(chr19:35811335-35898248)x1	FFAR3, CD22 +2 more	Copy number loss	not provided	GUncertain significance
Select item 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 221398	GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3	CD22, DMKN +18 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 44