GASK1B[gene] - ClinVar

Search results

Items: 87

	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 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 58047	GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3	C4orf46, ETFDH +56 more	Copy number gain	See cases	GPathogenic
Select item 155554	GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3	LOC112939921, LOC121725192 +84 more	Copy number gain	See cases	GLikely pathogenic
Select item 152866	GRCh38/hg38 4q32.1(chr4:157629491-158280863)x1	GASK1B, GASK1B-AS1 +8 more	Copy number loss	See cases	GUncertain significance
Select item 3098728	NM_001128424.2(GASK1B):c.1532G>A (p.Gly511Glu)	GASK1B (G511E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098727	NM_001128424.2(GASK1B):c.1453G>A (p.Gly485Ser)	GASK1B (G485S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517085	NM_001128424.2(GASK1B):c.1379T>C (p.Leu460Ser)	GASK1B (L460S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098726	NM_001128424.2(GASK1B):c.1375G>A (p.Val459Ile)	GASK1B (V467I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098725	NM_001128424.2(GASK1B):c.1295G>T (p.Gly432Val)	GASK1B (G432V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280830	NM_001128424.2(GASK1B):c.1271A>G (p.His424Arg)	GASK1B (H424R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098724	NM_001128424.2(GASK1B):c.1265C>A (p.Pro422Gln)	GASK1B (P430Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098723	NM_001128424.2(GASK1B):c.1251G>T (p.Gln417His)	GASK1B (Q425H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098722	NM_001128424.2(GASK1B):c.1235T>A (p.Leu412Gln)	GASK1B (L420Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098721	NM_001128424.2(GASK1B):c.1229C>T (p.Ala410Val)	GASK1B (A410V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3098720	NM_001128424.2(GASK1B):c.1216G>C (p.Asp406His)	GASK1B (D406H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098719	NM_001128424.2(GASK1B):c.1169G>T (p.Arg390Leu)	GASK1B (R390L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098718	NM_001128424.2(GASK1B):c.1168C>T (p.Arg390Cys)	GASK1B (R390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098717	NM_001128424.2(GASK1B):c.1082A>G (p.His361Arg)	GASK1B (H369R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280833	NM_001128424.2(GASK1B):c.1061C>T (p.Ser354Leu)	GASK1B (S354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098746	NM_001128424.2(GASK1B):c.910+194G>C	GASK1B (G329A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098745	NM_001128424.2(GASK1B):c.910+181A>G	GASK1B (M325V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280828	NM_001128424.2(GASK1B):c.910+172T>G	GASK1B (W322G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098744	NM_001128424.2(GASK1B):c.910+145C>A	GASK1B (R313S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548528	NM_001128424.2(GASK1B):c.910+131C>T	GASK1B (A308V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098743	NM_001128424.2(GASK1B):c.903C>G (p.Phe301Leu)	GASK1B (F301L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098742	NM_001128424.2(GASK1B):c.757G>T (p.Ala253Ser)	GASK1B (A253S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589949	NM_001128424.2(GASK1B):c.757G>C (p.Ala253Pro)	GASK1B (A253P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098741	NM_001128424.2(GASK1B):c.751G>T (p.Gly251Trp)	GASK1B (G251W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098740	NM_001128424.2(GASK1B):c.751G>C (p.Gly251Arg)	GASK1B (G251R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458777	NM_001128424.2(GASK1B):c.749A>T (p.Glu250Val)	GASK1B (E250V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098739	NM_001128424.2(GASK1B):c.701G>A (p.Gly234Glu)	GASK1B (G234E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538971	NM_001128424.2(GASK1B):c.683C>G (p.Ala228Gly)	GASK1B (A228G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280831	NM_001128424.2(GASK1B):c.635C>A (p.Ala212Asp)	GASK1B (A212D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280835	NM_001128424.2(GASK1B):c.613A>G (p.Ile205Val)	GASK1B, GASK1B-AS1 (I205V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098736	NM_001128424.2(GASK1B):c.569C>T (p.Ala190Val)	GASK1B, GASK1B-AS1 (A190V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098735	NM_001128424.2(GASK1B):c.565C>G (p.Arg189Gly)	GASK1B, GASK1B-AS1 (R189G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2591415	NM_001128424.2(GASK1B):c.557C>T (p.Pro186Leu)	GASK1B, GASK1B-AS1 (P186L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2476458	NM_001128424.2(GASK1B):c.524T>C (p.Ile175Thr)	GASK1B, GASK1B-AS1 (I175T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2568196	NM_001128424.2(GASK1B):c.504G>C (p.Gln168His)	GASK1B, GASK1B-AS1 (Q168H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2529869	NM_001128424.2(GASK1B):c.445T>C (p.Ser149Pro)	GASK1B, GASK1B-AS1 (S149P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098734	NM_001128424.2(GASK1B):c.385C>A (p.Arg129Ser)	GASK1B, GASK1B-AS1 (R129S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098733	NM_001128424.2(GASK1B):c.340A>G (p.Lys114Glu)	GASK1B, GASK1B-AS1 (K114E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098732	NM_001128424.2(GASK1B):c.335G>T (p.Arg112Leu)	GASK1B, GASK1B-AS1 (R112L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098731	NM_001128424.2(GASK1B):c.310C>G (p.Pro104Ala)	GASK1B, GASK1B-AS1 (P104A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098730	NM_001128424.2(GASK1B):c.302C>T (p.Thr101Ile)	GASK1B, GASK1B-AS1 (T101I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3280829	NM_001128424.2(GASK1B):c.287A>G (p.Gln96Arg)	GASK1B, GASK1B-AS1 (Q96R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098729	NM_001128424.2(GASK1B):c.271G>A (p.Ala91Thr)	GASK1B, GASK1B-AS1 (A91T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3280832	NM_001128424.2(GASK1B):c.251T>C (p.Ile84Thr)	GASK1B, GASK1B-AS1 (I84T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3280834	NM_001128424.2(GASK1B):c.206G>T (p.Gly69Val)	GASK1B, GASK1B-AS1 (G69V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2560969	NM_001128424.2(GASK1B):c.194C>A (p.Ala65Glu)	GASK1B, GASK1B-AS1 (A65E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3098737	NM_001128424.2(GASK1B):c.62C>T (p.Pro21Leu)	GASK1B, GASK1B-AS1 +1 more (P21L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2532379	NM_001128424.2(GASK1B):c.37T>A (p.Trp13Arg)	GASK1B, GASK1B-AS1 +1 more (W13R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2540122	NM_001128424.2(GASK1B):c.31A>G (p.Ile11Val)	GASK1B, GASK1B-AS1 +1 more (I11V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062776	GRCh37/hg19 4q32.1(chr4:158835348-160065395)x1	C4orf46, ETFDH +6 more	Copy number loss	not specified	GUncertain significance
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 1808169	GRCh37/hg19 4q32.1(chr4:158682606-159762612)x3	C4orf46, ETFDH +5 more	Copy number gain	not provided	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 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	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 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 685090	GRCh37/hg19 4q32.1-32.2(chr4:158177478-163328854)x1	GRIA2, PPID +9 more	Copy number loss	not provided	GUncertain significance
Select item 562987	GRCh37/hg19 4q32.1(chr4:158857134-159344475)x3	TMEM144, GASK1B	Copy number gain	not provided	GLikely benign
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
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 442488	GRCh37/hg19 4q32.1(chr4:158540157-159053835)x1	GASK1B	Copy number loss	See cases	GUncertain significance
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 253927	GRCh37/hg19 4q32.1(chr4:159047068-159600690)x3	C4orf46, ETFDH +3 more	Copy number gain	See cases	GUncertain significance
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

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Items: 87