ClinVar for Gene (Select 2867) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3094560	NM_001370087.1(FFAR2):c.977A>T (p.Asp326Val)	FFAR2 (D326V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094559	NM_001370087.1(FFAR2):c.955G>A (p.Gly319Arg)	FFAR2 (G319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094558	NM_001370087.1(FFAR2):c.74A>G (p.Asn25Ser)	FFAR2 (N25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094557	NM_001370087.1(FFAR2):c.739C>T (p.His247Tyr)	FFAR2 (H247Y)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3094556	NM_001370087.1(FFAR2):c.706G>A (p.Gly236Arg)	FFAR2 (G236R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094555	NM_001370087.1(FFAR2):c.650G>A (p.Arg217Gln)	FFAR2 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094554	NM_001370087.1(FFAR2):c.454A>G (p.Thr152Ala)	FFAR2 (T152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094553	NM_001370087.1(FFAR2):c.361C>A (p.Arg121Ser)	FFAR2 (R121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3094552	NM_001370087.1(FFAR2):c.163G>T (p.Asp55Tyr)	FFAR2 (D55Y)	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 2561289	NM_001370087.1(FFAR2):c.320G>A (p.Arg107His)	FFAR2 (R107H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560028	NM_001370087.1(FFAR2):c.46A>G (p.Ile16Val)	FFAR2 (I16V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551105	NM_001370087.1(FFAR2):c.47T>C (p.Ile16Thr)	FFAR2 (I16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541139	NM_001370087.1(FFAR2):c.874C>T (p.Arg292Trp)	FFAR2 (R292W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523199	NM_001370087.1(FFAR2):c.875G>A (p.Arg292Gln)	FFAR2 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521929	NM_001370087.1(FFAR2):c.917C>G (p.Thr306Arg)	FFAR2 (T306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518495	NM_001370087.1(FFAR2):c.241G>A (p.Val81Ile)	FFAR2 (V81I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487084	NM_001370087.1(FFAR2):c.944G>T (p.Gly315Val)	FFAR2 (G315V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478197	NM_001370087.1(FFAR2):c.604T>G (p.Phe202Val)	FFAR2 (F202V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467630	NM_001370087.1(FFAR2):c.508G>A (p.Asp170Asn)	FFAR2 (D170N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FFAR3, FXYD1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 2406991	NM_001370087.1(FFAR2):c.580G>C (p.Val194Leu)	FFAR2 (V194L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366417	NM_001370087.1(FFAR2):c.775G>A (p.Val259Met)	FFAR2 (V259M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323208	NM_001370087.1(FFAR2):c.974C>T (p.Ser325Leu)	FFAR2 (S325L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300357	NM_001370087.1(FFAR2):c.301G>C (p.Ala101Pro)	FFAR2 (A101P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292193	NM_001370087.1(FFAR2):c.110G>T (p.Arg37Leu)	FFAR2 (R37L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263372	NM_001370087.1(FFAR2):c.544G>A (p.Glu182Lys)	FFAR2 (E182K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246058	NM_001370087.1(FFAR2):c.919G>A (p.Ala307Thr)	FFAR2 (A307T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245448	NM_001370087.1(FFAR2):c.340C>T (p.Pro114Ser)	FFAR2 (P114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224969	NM_001370087.1(FFAR2):c.652C>T (p.Arg218Cys)	FFAR2 (R218C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +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 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 791358	NM_001370087.1(FFAR2):c.136A>G (p.Ile46Val)	FFAR2 (I46V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770464	NM_001370087.1(FFAR2):c.105G>T (p.Arg35=)	FFAR2	Single nucleotide variant (synonymous variant)	not provided	GBenign
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	ACP7, ACTMAP +434 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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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 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: 48