2549[geneid] - ClinVar

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Search results

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59479	GRCh38/hg38 4q26-31.21(chr4:116630862-145429900)x1	ABCE1, ABHD18 +420 more	Copy number loss	See cases	GPathogenic
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	LOC126807210, LOC126807211 +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC126807213, LOC126807214 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132089068, LOC132089069 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC126807202, LOC126807203 +1026 more	Copy number gain	See cases	GPathogenic
Select item 59481	GRCh38/hg38 4q31.21(chr4:140605955-144317039)x1	FREM3, GAB1 +44 more	Copy number loss	See cases	GPathogenic
Select item 58044	GRCh38/hg38 4q31.21-31.3(chr4:140876253-152186578)x3	ABCE1, ANAPC10 +214 more	Copy number gain	See cases	GPathogenic
Select item 151691	GRCh38/hg38 4q31.21(chr4:143139072-143763698)x1	FREM3, GAB1 +23 more	Copy number loss	See cases	GUncertain significance
Select item 1294735	NC_000004.12:g.143336749TG[19]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1286688	NC_000004.12:g.143336749TG[20]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1248334	NC_000004.12:g.143336749TG[17]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1231521	NC_000004.12:g.143336749TG[18]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1286146	NC_000004.12:g.143336749TG[12]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1229624	NC_000004.12:g.143336749TG[15]	GAB1, LOC129993136	Microsatellite	not provided	GBenign
Select item 1267291	NM_002039.4(GAB1):c.-222C>T	GAB1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3052380	NM_002039.4(GAB1):c.51G>C (p.Pro17=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GBenign
Select item 2622505	NM_002039.4(GAB1):c.110G>A (p.Arg37His)	GAB1 (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288114	NM_002039.4(GAB1):c.175A>G (p.Ile59Val)	GAB1 (I59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545492	NM_002039.4(GAB1):c.347G>A (p.Gly116Glu)	GAB1 (G116E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 26	GPathogenic
Select item 1226118	NM_002039.4(GAB1):c.367+164dup	GAB1	Duplication (intron variant)	not provided	GBenign
Select item 983425	NC_000004.12:g.143428960_143495936dup	GAB1, LOC126807172	Duplication	Bilateral sensorineural hearing impairment	GUncertain significance
Select item 3097744	NM_002039.4(GAB1):c.476C>A (p.Pro159His)	GAB1 (P159H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529506	NM_002039.4(GAB1):c.497A>G (p.Asn166Ser)	GAB1 (N166S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3097745	NM_002039.4(GAB1):c.502C>A (p.Pro168Thr)	GAB1 (P168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516854	NM_002039.4(GAB1):c.502C>T (p.Pro168Ser)	GAB1 (P168S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557721	NM_002039.4(GAB1):c.581C>G (p.Pro194Arg)	GAB1 (P194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050643	NM_002039.4(GAB1):c.582C>T (p.Pro194=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 2290098	NM_002039.4(GAB1):c.596C>T (p.Thr199Met)	GAB1, LOC126807172 (T199M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097746	NM_002039.4(GAB1):c.637T>G (p.Cys213Gly)	GAB1, LOC126807172 (C213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256068	NM_002039.4(GAB1):c.754G>T (p.Ala252Ser)	GAB1, LOC126807172 (A252S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552518	NM_002039.4(GAB1):c.809T>C (p.Leu270Ser)	GAB1, LOC126807172 (L270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238437	NM_002039.4(GAB1):c.830G>A (p.Ser277Asn)	GAB1, LOC126807172 (S277N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336167	NM_002039.4(GAB1):c.843T>A (p.Asp281Glu)	GAB1, LOC126807172 (D281E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097748	NM_002039.4(GAB1):c.881C>T (p.Ser294Leu)	GAB1, LOC126807172 (S294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387966	NM_002039.4(GAB1):c.1015G>A (p.Asp339Asn)	GAB1, LOC126807172 (D339N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044038	NM_002039.4(GAB1):c.1047T>C (p.His349=)	GAB1, LOC126807172	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 3097741	NM_002039.4(GAB1):c.1097C>T (p.Ala366Val)	GAB1, LOC126807172 (A366V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333729	NM_002039.4(GAB1):c.1153A>G (p.Ser385Gly)	GAB1, LOC126807172 (S385G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1278037	NM_002039.4(GAB1):c.1196-47G>A	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2614355	NM_002039.4(GAB1):c.1276C>A (p.His426Asn)	GAB1 (H426N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031712	NM_002039.4(GAB1):c.1392A>G (p.Thr464=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 2339411	NM_002039.4(GAB1):c.1451C>T (p.Ser484Leu)	GAB1 (S484L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066331	NM_002039.4(GAB1):c.1460_1462del (p.Met487_Gln488delinsLys)	GAB1	Deletion (inframe_indel)	Autosomal recessive nonsyndromic hearing loss 26	GUncertain significance
Select item 1263047	NM_002039.4(GAB1):c.1585+181C>T	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151721	GRCh38/hg38 4q31.21(chr4:143449949-143473442)x3	GAB1	Copy number gain	See cases	GLikely benign
Select item 1241571	NM_002039.4(GAB1):c.1586-1771_1586-1770del	GAB1	Deletion (intron variant)	not provided	GBenign
Select item 1239559	NM_002039.4(GAB1):c.1586-1770del	GAB1	Deletion (intron variant)	not provided	GBenign
Select item 3052468	NM_002039.4(GAB1):c.1586-1635C>T	GAB1	Single nucleotide variant (synonymous variant +1 more)	GAB1-related disorder	GBenign
Select item 1277018	NM_002039.4(GAB1):c.1586-139G>A	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177901	NM_002039.4(GAB1):c.1680-116A>G	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294745	NM_002039.4(GAB1):c.1680-54A>G	GAB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2554604	NM_002039.4(GAB1):c.1775T>C (p.Met592Thr)	GAB1 (M592T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615681	NM_002039.4(GAB1):c.1800C>A (p.Asp600Glu)	GAB1 (D630E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466445	NM_002039.4(GAB1):c.1821C>A (p.Asn607Lys)	GAB1 (N607K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402109	NM_002039.4(GAB1):c.1829A>T (p.Asp610Val)	GAB1 (D610V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390119	NM_002039.4(GAB1):c.1848G>C (p.Met616Ile)	GAB1 (M616I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048227	NM_002039.4(GAB1):c.1890C>T (p.Leu630=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GBenign
Select item 3097743	NM_002039.4(GAB1):c.1921C>A (p.Arg641Ser)	GAB1 (R641S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045706	NM_002039.4(GAB1):c.2064G>A (p.Thr688=)	GAB1	Single nucleotide variant (synonymous variant)	GAB1-related disorder	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAM149A, FAM218A +197 more	Copy number gain	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	SPATA18, SPATA4 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	PLK4, TRPC3 +153 more	Copy number gain	not provided	GPathogenic
Select item 1527125	GRCh37/hg19 4q28.3-31.21(chr4:136035308-144718930)	CLGN, ELF2 +23 more	Copy number gain	not specified	GUncertain significance
Select item 1527114	GRCh37/hg19 4q24-31.21(chr4:104715235-145252595)	ABHD18, ADAD1 +123 more	Copy number gain	not specified	GPathogenic
Select item 1340989	GRCh37/hg19 4q28.3-31.21(chr4:138289049-145923298)x1	ANAPC10, CLGN +28 more	Copy number loss	not provided	GPathogenic
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
Select item 814610	GRCh37/hg19 4q31.1-31.21(chr4:139531815-146095109)x1	FREM3, HHIP +28 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 687333	GRCh37/hg19 4q31.1-31.21(chr4:140522019-146347867)x1	ABCE1, ANAPC10 +21 more	Copy number loss	not provided	GUncertain significance
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	LRBA, LRIT3 +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	AADAT, ABCE1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	USP38, WWC2 +142 more	Copy number gain	See cases	GPathogenic

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Items: 79