FAM117B[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
Select item 2511445	NM_173511.4(FAM117B):c.19C>T (p.Arg7Cys)	FAM117B, LOC129935438 (R7C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483886	NM_173511.4(FAM117B):c.34A>G (p.Thr12Ala)	FAM117B, LOC129935438 (T12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604063	NM_173511.4(FAM117B):c.55G>A (p.Gly19Ser)	FAM117B (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315825	NM_173511.4(FAM117B):c.136C>G (p.Gln46Glu)	FAM117B (Q46E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290330	NM_173511.4(FAM117B):c.178G>A (p.Gly60Ser)	FAM117B (G60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361460	NM_173511.4(FAM117B):c.250G>A (p.Gly84Ser)	FAM117B, LOC129935439 (G84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520977	NM_173511.4(FAM117B):c.257G>A (p.Arg86His)	FAM117B, LOC129935439 (R86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228383	NM_173511.4(FAM117B):c.298A>G (p.Asn100Asp)	FAM117B (N100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091709	NM_173511.4(FAM117B):c.338C>A (p.Thr113Lys)	FAM117B (T113K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091710	NM_173511.4(FAM117B):c.359C>T (p.Thr120Met)	FAM117B (T120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608408	NM_173511.4(FAM117B):c.373C>T (p.Pro125Ser)	FAM117B (P125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614993	NM_173511.4(FAM117B):c.458C>A (p.Pro153His)	FAM117B, LOC129935440 (P153H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488804	NM_173511.4(FAM117B):c.539C>T (p.Ser180Phe)	FAM117B, LOC129935440 (S180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477886	NM_173511.4(FAM117B):c.542C>T (p.Pro181Leu)	FAM117B, LOC129935440 (P181L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091711	NM_173511.4(FAM117B):c.552C>G (p.Ser184Arg)	FAM117B, LOC129935440 (S184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329774	NM_173511.4(FAM117B):c.562C>T (p.Pro188Ser)	FAM117B, LOC129935440 (P188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218391	NM_173511.4(FAM117B):c.635C>G (p.Ser212Cys)	FAM117B (S212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491319	NM_173511.4(FAM117B):c.650G>A (p.Arg217His)	FAM117B (R217H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346298	NM_173511.4(FAM117B):c.677C>T (p.Ala226Val)	FAM117B (A226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091713	NM_173511.4(FAM117B):c.757G>A (p.Glu253Lys)	FAM117B (E253K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204777	NM_173511.4(FAM117B):c.808C>T (p.Arg270Cys)	FAM117B (R270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260532	NM_173511.4(FAM117B):c.809G>A (p.Arg270His)	FAM117B (R270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213448	NM_173511.4(FAM117B):c.832G>A (p.Asp278Asn)	FAM117B (D278N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396120	NM_173511.4(FAM117B):c.964C>T (p.Pro322Ser)	FAM117B (P322S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478244	NM_173511.4(FAM117B):c.997C>G (p.Pro333Ala)	FAM117B (P333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091707	NM_173511.4(FAM117B):c.1100T>G (p.Leu367Arg)	FAM117B (L367R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531084	NM_173511.4(FAM117B):c.1246A>G (p.Thr416Ala)	FAM117B (T416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606595	NM_173511.4(FAM117B):c.1268A>G (p.Asn423Ser)	FAM117B (N423S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599098	NM_173511.4(FAM117B):c.1295C>T (p.Ser432Leu)	FAM117B (S432L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252042	NM_173511.4(FAM117B):c.1340A>G (p.Asn447Ser)	FAM117B (N447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321439	NM_173511.4(FAM117B):c.1630A>T (p.Thr544Ser)	FAM117B (T544S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204229	NM_173511.4(FAM117B):c.1654G>A (p.Val552Met)	FAM117B (V552M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2526218	NM_173511.4(FAM117B):c.1697G>T (p.Arg566Leu)	FAM117B (R566L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091708	NM_173511.4(FAM117B):c.1716G>T (p.Met572Ile)	FAM117B (M572I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Immunodeficiency, common variable, 1 +1 more	GUncertain significance
Select item 1808940	GRCh37/hg19 2q33.2(chr2:203632510-203693302)x1	FAM117B, ICA1L	Copy number loss	not provided	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	CREB1, CRYGA +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	C2CD6, CASP8 +25 more	Deletion	Immunodeficiency, common variable, 1 +2 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 814357	GRCh37/hg19 2q33.1-33.2(chr2:203295762-203610801)x3	FAM117B, BMPR2	Copy number gain	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813271	Single allele	ICA1L, NBEAL1 +4 more	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 394155	GRCh37/hg19 2q33.2(chr2:203583507-203628663)x3	FAM117B	Copy number gain	See cases	GUncertain significance

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Items: 66