21408[HGNC] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 3024363	GRCh38/hg38 6q15(chr6:88638119-89726639)	LOC129389578, LOC129996811 +45 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 153743	GRCh38/hg38 6q15(chr6:89007799-89705596)x3	ANKRD6, GABRR1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 2208412	NM_080743.5(SRSF12):c.767G>A (p.Arg256His)	PM20D2, SRSF12 (R161H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170257	NM_080743.5(SRSF12):c.746A>T (p.His249Leu)	PM20D2, SRSF12 (H249L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559334	NM_080743.5(SRSF12):c.739C>T (p.Arg247Trp)	PM20D2, SRSF12 (R247W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540841	NM_080743.5(SRSF12):c.638A>G (p.His213Arg)	PM20D2, SRSF12 (H118R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301000	NM_080743.5(SRSF12):c.602A>G (p.Gln201Arg)	PM20D2, SRSF12 (Q106R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323399	NM_080743.5(SRSF12):c.479G>A (p.Arg160Gln)	PM20D2, SRSF12 (R160Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170255	NM_080743.5(SRSF12):c.458G>A (p.Arg153His)	PM20D2, SRSF12 (R153H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380822	NM_080743.5(SRSF12):c.425A>C (p.His142Pro)	PM20D2, SRSF12 (H47P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292117	NM_080743.5(SRSF12):c.348C>A (p.Ser116Arg)	PM20D2, SRSF12 (S116R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464625	NM_080743.5(SRSF12):c.79C>T (p.Arg27Cys)	PM20D2, SRSF12 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3308025	NM_001010853.3(PM20D2):c.7C>T (p.Pro3Ser)	LOC129996818, PM20D2 (P3S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409761	NM_001010853.3(PM20D2):c.26T>C (p.Val9Ala)	LOC129996818, PM20D2 (V9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559320	NM_001010853.3(PM20D2):c.29A>C (p.Glu10Ala)	LOC129996818, PM20D2 (E10A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308020	NM_001010853.3(PM20D2):c.53C>T (p.Ser18Phe)	LOC129996818, PM20D2 (S18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314128	NM_001010853.3(PM20D2):c.56A>T (p.Glu19Val)	LOC129996818, PM20D2 (E19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215785	NM_001010853.3(PM20D2):c.76C>T (p.Arg26Cys)	LOC129996818, PM20D2 (R26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215778	NM_001010853.3(PM20D2):c.151C>G (p.Leu51Val)	LOC129996818, PM20D2 (L51V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388281	NM_001010853.3(PM20D2):c.152T>A (p.Leu51Gln)	LOC129996818, PM20D2 (L51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313772	NM_001010853.3(PM20D2):c.214G>A (p.Ala72Thr)	LOC129996818, PM20D2 (A72T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215779	NM_001010853.3(PM20D2):c.257C>G (p.Ala86Gly)	LOC129996818, PM20D2 (A86G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404702	NM_001010853.3(PM20D2):c.289C>G (p.Arg97Gly)	LOC129996818, PM20D2 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402915	NM_001010853.3(PM20D2):c.296C>G (p.Pro99Arg)	LOC129996818, PM20D2 (P99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308019	NM_001010853.3(PM20D2):c.331C>G (p.Leu111Val)	LOC129996818, PM20D2 (L111V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294427	NM_001010853.3(PM20D2):c.331C>T (p.Leu111Phe)	LOC129996818, PM20D2 (L111F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308023	NM_001010853.3(PM20D2):c.346G>T (p.Ala116Ser)	LOC129996818, PM20D2 (A116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357018	NM_001010853.3(PM20D2):c.361G>C (p.Gly121Arg)	LOC129996818, PM20D2 (G121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215780	NM_001010853.3(PM20D2):c.388G>T (p.Ala130Ser)	LOC129996818, PM20D2 (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215781	NM_001010853.3(PM20D2):c.400G>T (p.Ala134Ser)	LOC129996818, PM20D2 (A134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215782	NM_001010853.3(PM20D2):c.431T>C (p.Leu144Ser)	LOC129996818, PM20D2 (L144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612908	NM_001010853.3(PM20D2):c.457C>A (p.Pro153Thr)	LOC129996818, PM20D2 (P153T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406528	NM_001010853.3(PM20D2):c.457C>T (p.Pro153Ser)	LOC129996818, PM20D2 (P153S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390048	NM_001010853.3(PM20D2):c.460G>T (p.Val154Leu)	LOC129996818, PM20D2 (V154L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215783	NM_001010853.3(PM20D2):c.473T>C (p.Val158Ala)	PM20D2 (V158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297638	NM_001010853.3(PM20D2):c.549T>A (p.Asp183Glu)	PM20D2 (D183E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3215784	NM_001010853.3(PM20D2):c.578A>G (p.Glu193Gly)	PM20D2 (E193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284601	NM_001010853.3(PM20D2):c.583G>A (p.Ala195Thr)	PM20D2 (A195T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588753	NM_001010853.3(PM20D2):c.622G>T (p.Val208Leu)	PM20D2 (V208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308024	NM_001010853.3(PM20D2):c.723C>A (p.Phe241Leu)	PM20D2 (F241L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2516850	NM_001010853.3(PM20D2):c.778G>A (p.Val260Ile)	PM20D2 (V260I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280751	NM_001010853.3(PM20D2):c.779T>G (p.Val260Gly)	PM20D2 (V260G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215786	NM_001010853.3(PM20D2):c.959A>G (p.Asn320Ser)	PM20D2 (N320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308018	NM_001010853.3(PM20D2):c.967C>G (p.Leu323Val)	PM20D2 (L323V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539275	NM_001010853.3(PM20D2):c.1025A>G (p.Asp342Gly)	PM20D2 (D342G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526983	NM_001010853.3(PM20D2):c.1132A>G (p.Thr378Ala)	PM20D2 (T378A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341665	NM_001010853.3(PM20D2):c.1222G>A (p.Val408Ile)	PM20D2 (V408I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523167	NM_001010853.3(PM20D2):c.1242A>C (p.Leu414Phe)	PM20D2 (L414F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593501	NM_001010853.3(PM20D2):c.1266T>A (p.Phe422Leu)	PM20D2 (F422L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215776	NM_001010853.3(PM20D2):c.1288C>G (p.Gln430Glu)	PM20D2 (Q430E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215777	NM_001010853.3(PM20D2):c.1291T>C (p.Phe431Leu)	PM20D2 (F431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527264	GRCh37/hg19 6q15(chr6:89720586-90415315)	ANKRD6, GABRR1 +8 more	Copy number gain	not specified	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441948	GRCh37/hg19 6q15(chr6:89717153-90408813)x3	ANKRD6, GABRR1 +8 more	Copy number gain	See cases	GUncertain significance

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Items: 70