ClinVar for Gene (Select 9715) - ClinVar

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Links from Gene

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277145	NM_001031690.3(FAM131B):c.1052T>C (p.Phe351Ser)	FAM131B (F311S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277144	NM_001031690.3(FAM131B):c.93C>A (p.Ser31Arg)	FAM131B (S31R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277143	NM_001031690.3(FAM131B):c.193A>T (p.Thr65Ser)	FAM131B (T25S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3260227	NM_003461.5(ZYX):c.157C>A (p.Gln53Lys)	FAM131B, ZYX (Q53K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199720	NM_003461.5(ZYX):c.230C>T (p.Pro77Leu)	FAM131B, ZYX (P77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3199718	NM_003461.5(ZYX):c.151G>A (p.Gly51Arg)	FAM131B, ZYX (G51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148948	GRCh37/hg19 7q34-36.3(chr7:141690279-159119707)x3	ABCB8, ABCF2 +125 more	Copy number gain	See cases	GPathogenic
Select item 3091777	NM_001031690.3(FAM131B):c.877G>A (p.Ala293Thr)	FAM131B (A293T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091776	NM_001031690.3(FAM131B):c.469G>A (p.Val157Ile)	FAM131B (V117I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091775	NM_001031690.3(FAM131B):c.278G>A (p.Arg93Gln)	FAM131B (R81Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091774	NM_001031690.3(FAM131B):c.115A>C (p.Ser39Arg)	FAM131B (S11R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 2685272	GRCh37/hg19 7q34-36.3(chr7:142099013-159119707)x1	CLCN1, RHEB +123 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2684506	GRCh37/hg19 7q34-35(chr7:142833114-143218955)x3	CASP2, CLCN1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 2681266	NM_001031690.3(FAM131B):c.315G>A (p.Met105Ile)	FAM131B (M105I +5 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2658116	NM_003461.5(ZYX):c.192C>T (p.Pro64=)	FAM131B, ZYX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2602711	NM_001031690.3(FAM131B):c.181A>T (p.Met61Leu)	FAM131B (M49L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593165	NM_003461.5(ZYX):c.20C>T (p.Ser7Phe)	ZYX, FAM131B (S7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	OR2A25, OR6B1 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	LOC129999716, LOC129999717 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	EPHA1-AS1, EPHB6 +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2555535	NM_001031690.3(FAM131B):c.164A>G (p.Asp55Gly)	FAM131B (D27G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2490554	NM_001031690.3(FAM131B):c.577A>C (p.Ser193Arg)	FAM131B (S193R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465607	NM_001031690.3(FAM131B):c.1069G>C (p.Glu357Gln)	FAM131B (E357Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2350382	NM_001031690.3(FAM131B):c.728C>T (p.Pro243Leu)	FAM131B (P149L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331658	NM_001031690.3(FAM131B):c.73G>A (p.Asp25Asn)	FAM131B (D25N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331284	NM_001031690.3(FAM131B):c.404G>A (p.Arg135His)	FAM131B (R123H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323690	NM_001031690.3(FAM131B):c.328G>T (p.Val110Leu)	FAM131B (V110L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320381	NM_001031690.3(FAM131B):c.149C>A (p.Thr50Asn)	FAM131B (T22N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2276353	NM_001031690.3(FAM131B):c.125G>A (p.Arg42Gln)	FAM131B (R42Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264545	NM_001031690.3(FAM131B):c.818C>G (p.Ser273Cys)	FAM131B (S233C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260396	NM_003461.5(ZYX):c.152G>A (p.Gly51Glu)	FAM131B, ZYX (G51E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260232	NM_001031690.3(FAM131B):c.857A>T (p.Asp286Val)	FAM131B (D192V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260231	NM_001031690.3(FAM131B):c.856G>A (p.Asp286Asn)	FAM131B (D274N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260230	NM_001031690.3(FAM131B):c.780G>T (p.Leu260Phe)	FAM131B (L232F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223429	NM_001031690.3(FAM131B):c.409G>C (p.Asp137His)	FAM131B (D109H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218481	NM_001031690.3(FAM131B):c.379C>T (p.Pro127Ser)	FAM131B (P87S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212624	NM_001031690.3(FAM131B):c.427G>A (p.Asp143Asn)	FAM131B (D131N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207084	NM_001031690.3(FAM131B):c.866C>T (p.Pro289Leu)	FAM131B (P249L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527406	GRCh37/hg19 7q34-35(chr7:142691458-143193361)	CASP2, CLCN1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	BPGM, SLC35B4 +105 more	Copy number loss	Abnormal facial shape +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 795898	NM_001031690.3(FAM131B):c.318G>A (p.Gly106=)	FAM131B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 784501	NM_003461.5(ZYX):c.188T>G (p.Ile63Ser)	FAM131B, ZYX (I63S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687979	GRCh37/hg19 7q34-35(chr7:141751875-147105208)x3	ARHGEF35, ARHGEF5 +44 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	DGKI, DNAJB6 +166 more	Copy number gain	See cases	GPathogenic
Select item 374131	NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)	CLCN1, FAM131B (Q879*)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	PRKAG2, PRKAG2-AS1 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	TRBV27, TRBV28 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	LOC129389895, LOC129389896 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	OR2A2, OR2A25 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	AASS, ABCB8 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999635, LOC129999636 +944 more	Copy number loss	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	LOC129999721, LOC129999722 +707 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	ABCB8, ABCF2 +737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	ABCB8, ABCF2 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	TRC-GCA9-3, TRC-GCA9-4 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic
Select item 57046	GRCh38/hg38 7q34-35(chr7:142578948-144254897)x1	ARHGEF35, ARHGEF35-AS1 +110 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 83