17537[HGNC] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 146396	GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1	ARFIP1, ASIC5 +210 more	Copy number loss	See cases	GLikely pathogenic
Select item 3235952	GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)	ASIC5, CTSO +45 more	Copy number loss	not provided	GUncertain significance
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 60201	GRCh38/hg38 4q32.1(chr4:155605468-156026047)x1	ASIC5, CTSO +6 more	Copy number loss	See cases	GUncertain significance
Select item 2655152	NM_017419.3(ASIC5):c.1409A>G (p.Asn470Ser)	ASIC5 (N470S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3130380	NM_017419.3(ASIC5):c.1406C>G (p.Thr469Ser)	ASIC5 (T469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130379	NM_017419.3(ASIC5):c.1391T>C (p.Ile464Thr)	ASIC5 (I464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207768	NM_017419.3(ASIC5):c.1376C>T (p.Thr459Met)	ASIC5 (T459M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318190	NM_017419.3(ASIC5):c.1337G>A (p.Gly446Asp)	ASIC5 (G446D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382388	NM_017419.3(ASIC5):c.1286T>A (p.Ile429Lys)	ASIC5 (I429K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622365	NM_017419.3(ASIC5):c.1278C>G (p.Asn426Lys)	ASIC5 (N426K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318218	NM_017419.3(ASIC5):c.1253T>A (p.Ile418Asn)	ASIC5 (I418N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130378	NM_017419.3(ASIC5):c.1222C>T (p.Arg408Trp)	ASIC5 (R408W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276709	NM_017419.3(ASIC5):c.1201T>C (p.Ser401Pro)	ASIC5 (S401P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318166	NM_017419.3(ASIC5):c.1130G>A (p.Cys377Tyr)	ASIC5 (C377Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223322	NM_017419.3(ASIC5):c.1108A>T (p.Asn370Tyr)	ASIC5 (N370Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334200	NM_017419.3(ASIC5):c.1064T>C (p.Leu355Pro)	ASIC5 (L355P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318155	NM_017419.3(ASIC5):c.965A>G (p.Gln322Arg)	ASIC5 (Q322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130386	NM_017419.3(ASIC5):c.934A>T (p.Thr312Ser)	ASIC5 (T312S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130384	NM_017419.3(ASIC5):c.850C>T (p.Arg284Cys)	ASIC5 (R284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320702	NM_017419.3(ASIC5):c.797T>C (p.Phe266Ser)	ASIC5 (F266S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363968	NM_017419.3(ASIC5):c.790C>A (p.Pro264Thr)	ASIC5 (P264T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130383	NM_017419.3(ASIC5):c.757A>T (p.Ile253Phe)	ASIC5 (I253F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 684614	NM_017419.3(ASIC5):c.680G>T (p.Arg227Ile)	ASIC5 (R227I)	Single nucleotide variant (missense variant)	Pregnancy loss, recurrent, susceptibility to, 3	GPathogenic
Select item 2609734	NM_017419.3(ASIC5):c.571C>A (p.Pro191Thr)	ASIC5 (P191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563154	NM_017419.3(ASIC5):c.564T>G (p.Phe188Leu)	ASIC5 (F188L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318229	NM_017419.3(ASIC5):c.500T>C (p.Val167Ala)	ASIC5 (V167A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130382	NM_017419.3(ASIC5):c.488A>G (p.Asn163Ser)	ASIC5 (N163S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130381	NM_017419.3(ASIC5):c.355A>C (p.Thr119Pro)	ASIC5 (T119P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280830	NM_017419.3(ASIC5):c.312G>A (p.Met104Ile)	ASIC5 (M104I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3318175	NM_017419.3(ASIC5):c.298T>C (p.Tyr100His)	ASIC5 (Y100H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318199	NM_017419.3(ASIC5):c.296A>G (p.Gln99Arg)	ASIC5 (Q99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033718	NM_017419.3(ASIC5):c.287T>C (p.Ile96Thr)	ASIC5 (I96T)	Single nucleotide variant (missense variant)	ASIC5-related disorder	GLikely benign
Select item 2365853	NM_017419.3(ASIC5):c.280A>G (p.Thr94Ala)	ASIC5 (T94A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283108	NM_017419.3(ASIC5):c.248G>A (p.Arg83His)	ASIC5 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321023	NM_017419.3(ASIC5):c.237G>C (p.Gln79His)	ASIC5 (Q79H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481680	NM_017419.3(ASIC5):c.106A>G (p.Lys36Glu)	ASIC5 (K36E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412092	NM_017419.3(ASIC5):c.101G>A (p.Arg34Gln)	ASIC5 (R34Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130387	NM_017419.3(ASIC5):c.98A>G (p.Glu33Gly)	ASIC5 (E33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130385	NM_017419.3(ASIC5):c.92C>T (p.Pro31Leu)	ASIC5 (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318178	NM_017419.3(ASIC5):c.79C>T (p.Pro27Ser)	ASIC5 (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3318209	NM_017419.3(ASIC5):c.67C>G (p.Leu23Val)	ASIC5 (L23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038790	NM_017419.3(ASIC5):c.65G>T (p.Cys22Phe)	ASIC5 (C22F)	Single nucleotide variant (missense variant)	ASIC5-related disorder	GLikely benign
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +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	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 more	Copy number gain	not provided	GPathogenic
Select item 1807979	GRCh37/hg19 4q32.1(chr4:156496867-156951937)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 1527132	GRCh37/hg19 4q32.1(chr4:156496866-156956631)	ASIC5, CTSO +3 more	Copy number loss	not specified	GUncertain significance
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 814618	GRCh37/hg19 4q32.1(chr4:156578400-158404825)x1	GRIA2, GUCY1B1 +6 more	Copy number loss	not provided	GUncertain significance
Select item 814616	GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1	PLRG1, CTSO +24 more	Copy number loss	not provided	GLikely pathogenic
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 688826	GRCh37/hg19 4q32.1(chr4:156496866-156952792)x1	ASIC5, CTSO +3 more	Copy number loss	not provided	GUncertain significance
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 687887	GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1	ASIC5, CTSO +15 more	Copy number loss	not provided	GUncertain significance
Select item 685696	GRCh37/hg19 4q32.1(chr4:156610216-156842193)x3	ASIC5, GUCY1A1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562985	GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1	MAP9, LRAT +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
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 442937	GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1	ARFIP1, ASIC5 +36 more	Copy number loss	See cases	GPathogenic
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic
Select item 226162	GRCh37/hg19 4q32.1(chr4:156745682-157287454)	ASIC5, CTSO +1 more	Copy number gain	Abnormal esophagus morphology	GLikely benign

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Items: 77