FAM187B[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	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 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 3092191	NM_152481.2(FAM187B):c.1070C>T (p.Ser357Phe)	FAM187B (S357F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359692	NM_152481.2(FAM187B):c.983A>T (p.Asp328Val)	FAM187B (D328V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317143	NM_152481.2(FAM187B):c.971G>A (p.Arg324Gln)	FAM187B (R324Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605594	NM_152481.2(FAM187B):c.923A>G (p.Gln308Arg)	FAM187B (Q308R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368309	NM_152481.2(FAM187B):c.911C>T (p.Thr304Met)	FAM187B (T304M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092201	NM_152481.2(FAM187B):c.910A>C (p.Thr304Pro)	FAM187B (T304P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535654	NM_152481.2(FAM187B):c.891A>C (p.Lys297Asn)	FAM187B (K297N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2283647	NM_152481.2(FAM187B):c.874C>T (p.Leu292Phe)	FAM187B (L292F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507542	NM_152481.2(FAM187B):c.855G>C (p.Lys285Asn)	FAM187B (K285N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251256	NM_152481.2(FAM187B):c.854A>G (p.Lys285Arg)	FAM187B (K285R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092200	NM_152481.2(FAM187B):c.853A>G (p.Lys285Glu)	FAM187B (K285E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092199	NM_152481.2(FAM187B):c.842C>T (p.Pro281Leu)	FAM187B (P281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315291	NM_152481.2(FAM187B):c.840G>C (p.Gln280His)	FAM187B (Q280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214925	NM_152481.2(FAM187B):c.749C>A (p.Thr250Asn)	FAM187B (T250N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611738	NM_152481.2(FAM187B):c.737G>A (p.Arg246His)	FAM187B (R246H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092198	NM_152481.2(FAM187B):c.697G>A (p.Asp233Asn)	FAM187B (D233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553351	NM_152481.2(FAM187B):c.670G>A (p.Asp224Asn)	FAM187B (D224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279023	NM_152481.2(FAM187B):c.621T>A (p.Asn207Lys)	FAM187B (N207K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092197	NM_152481.2(FAM187B):c.577C>T (p.Arg193Trp)	FAM187B (R193W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353784	NM_152481.2(FAM187B):c.571C>T (p.Arg191Cys)	FAM187B (R191C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212021	NM_152481.2(FAM187B):c.505G>A (p.Glu169Lys)	FAM187B (E169K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092196	NM_152481.2(FAM187B):c.499T>A (p.Tyr167Asn)	FAM187B (Y167N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349496	NM_152481.2(FAM187B):c.496C>T (p.Arg166Cys)	FAM187B (R166C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376292	NM_152481.2(FAM187B):c.470C>T (p.Pro157Leu)	FAM187B (P157L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277324	NM_152481.2(FAM187B):c.458G>A (p.Arg153His)	FAM187B (R153H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2477573	NM_152481.2(FAM187B):c.457C>T (p.Arg153Cys)	FAM187B (R153C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376291	NM_152481.2(FAM187B):c.447G>T (p.Gln149His)	FAM187B (Q149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277322	NM_152481.2(FAM187B):c.391G>A (p.Glu131Lys)	FAM187B (E131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524846	NM_152481.2(FAM187B):c.380C>T (p.Pro127Leu)	FAM187B (P127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277323	NM_152481.2(FAM187B):c.352A>G (p.Ile118Val)	FAM187B (I118V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3092195	NM_152481.2(FAM187B):c.325G>T (p.Asp109Tyr)	FAM187B (D109Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461708	NM_152481.2(FAM187B):c.301C>T (p.Arg101Cys)	FAM187B (R101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324129	NM_152481.2(FAM187B):c.269C>T (p.Thr90Met)	FAM187B (T90M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387529	NM_152481.2(FAM187B):c.252T>G (p.Asp84Glu)	FAM187B (D84E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092193	NM_152481.2(FAM187B):c.153G>C (p.Trp51Cys)	FAM187B (W51C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092192	NM_152481.2(FAM187B):c.149A>C (p.His50Pro)	FAM187B (H50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457305	NM_152481.2(FAM187B):c.97G>T (p.Ala33Ser)	FAM187B (A33S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304017	NM_152481.2(FAM187B):c.40C>A (p.Pro14Thr)	FAM187B (P14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255134	NM_152481.2(FAM187B):c.26T>C (p.Leu9Pro)	FAM187B (L9P)	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 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 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	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 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 687741	GRCh37/hg19 19q13.12(chr19:35548527-35772471)x3	FAM187B, FXYD1 +7 more	Copy number gain	not provided	GUncertain significance
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

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Items: 59