17280[HGNC] - ClinVar - NCBI

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	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 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 2347429	NM_001242809.2(ANKRD6):c.22G>A (p.Ala8Thr)	ANKRD6 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356788	NM_001242809.2(ANKRD6):c.56A>T (p.Tyr19Phe)	ANKRD6 (Y19F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516216	NM_001242809.2(ANKRD6):c.85C>T (p.Leu29Phe)	ANKRD6 (L29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267836	NM_001242809.2(ANKRD6):c.88A>C (p.Ile30Leu)	ANKRD6 (I30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297990	NM_001242809.2(ANKRD6):c.128G>A (p.Arg43Gln)	ANKRD6 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399275	NM_001242809.2(ANKRD6):c.242G>T (p.Arg81Leu)	ANKRD6 (R81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322462	NM_001242809.2(ANKRD6):c.242G>A (p.Arg81Gln)	ANKRD6 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273502	NM_001242809.2(ANKRD6):c.278C>T (p.Ala93Val)	ANKRD6 (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041275	NM_001242809.2(ANKRD6):c.364C>G (p.Gln122Glu)	ANKRD6 (Q122E)	Single nucleotide variant (missense variant +1 more)	ANKRD6-related disorder	GBenign
Select item 784092	NM_001242809.2(ANKRD6):c.369A>G (p.Ser123=)	ANKRD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3355847	NM_001242809.2(ANKRD6):c.381C>T (p.Leu127=)	ANKRD6	Single nucleotide variant (synonymous variant +1 more)	ANKRD6-related disorder	GLikely benign
Select item 3060685	NM_001242809.2(ANKRD6):c.382A>G (p.Ile128Val)	ANKRD6 (I128V)	Single nucleotide variant (missense variant +1 more)	ANKRD6-related disorder	GBenign
Select item 2591298	NM_001242809.2(ANKRD6):c.403C>G (p.Leu135Val)	ANKRD6 (L135V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3297927	NM_001242809.2(ANKRD6):c.419C>T (p.Ala140Val)	ANKRD6 (A107V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284091	NM_001242809.2(ANKRD6):c.454A>C (p.Ser152Arg)	ANKRD6 (S119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126918	NM_001242809.2(ANKRD6):c.457C>T (p.His153Tyr)	ANKRD6 (H120Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046684	NM_001242809.2(ANKRD6):c.471G>A (p.Thr157=)	ANKRD6	Single nucleotide variant (synonymous variant)	ANKRD6-related disorder	GLikely benign
Select item 2471142	NM_001242809.2(ANKRD6):c.472C>T (p.Arg158Cys)	ANKRD6 (R158C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382442	NM_001242809.2(ANKRD6):c.475G>A (p.Val159Ile)	ANKRD6 (V126I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472415	NM_001242809.2(ANKRD6):c.496C>T (p.Arg166Cys)	ANKRD6 (R133C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126919	NM_001242809.2(ANKRD6):c.497G>A (p.Arg166His)	ANKRD6 (R166H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370655	NM_001242809.2(ANKRD6):c.527C>A (p.Thr176Asn)	ANKRD6 (T143N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126920	NM_001242809.2(ANKRD6):c.538G>A (p.Val180Ile)	ANKRD6 (V147I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126921	NM_001242809.2(ANKRD6):c.545C>T (p.Ala182Val)	ANKRD6 (A149V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656761	NM_001242809.2(ANKRD6):c.546G>A (p.Ala182=)	ANKRD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207827	NM_001242809.2(ANKRD6):c.547C>T (p.Arg183Cys)	ANKRD6 (R150C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339545	NM_001242809.2(ANKRD6):c.560T>G (p.Leu187Trp)	ANKRD6 (L154W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520291	NM_001242809.2(ANKRD6):c.565A>G (p.Ile189Val)	ANKRD6 (I189V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126922	NM_001242809.2(ANKRD6):c.574C>T (p.Leu192Phe)	ANKRD6 (L192F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298000	NM_001242809.2(ANKRD6):c.617C>G (p.Ala206Gly)	ANKRD6 (A173G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126923	NM_001242809.2(ANKRD6):c.626C>A (p.Thr209Lys)	ANKRD6 (T209K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609334	NM_001242809.2(ANKRD6):c.675C>G (p.Ile225Met)	ANKRD6 (I225M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656762	NM_001242809.2(ANKRD6):c.687C>T (p.Ala229=)	ANKRD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060427	NM_001242809.2(ANKRD6):c.698C>T (p.Thr233Met)	ANKRD6 (T200M +1 more)	Single nucleotide variant (missense variant)	ANKRD6-related disorder	GBenign
Select item 2274558	NM_001242809.2(ANKRD6):c.742C>T (p.Arg248Cys)	ANKRD6 (R248C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528220	NM_001242809.2(ANKRD6):c.743G>A (p.Arg248His)	ANKRD6 (R248H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318684	NM_001242809.2(ANKRD6):c.743G>T (p.Arg248Leu)	ANKRD6 (R248L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262483	NM_001242809.2(ANKRD6):c.754A>G (p.Asn252Asp)	ANKRD6 (N252D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383783	NM_001242809.2(ANKRD6):c.758C>G (p.Pro253Arg)	ANKRD6 (P253R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604166	NM_001242809.2(ANKRD6):c.785C>T (p.Ala262Val)	ANKRD6 (A262V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258858	NM_001242809.2(ANKRD6):c.799C>T (p.Arg267Cys)	ANKRD6 (R267C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401088	NM_001242809.2(ANKRD6):c.905T>C (p.Val302Ala)	ANKRD6 (V267A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298018	NM_001242809.2(ANKRD6):c.934C>A (p.Gln312Lys)	ANKRD6 (Q253K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297979	NM_001242809.2(ANKRD6):c.948A>C (p.Arg316Ser)	ANKRD6 (R257S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298010	NM_001242809.2(ANKRD6):c.962G>A (p.Arg321Lys)	ANKRD6 (R286K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297957	NM_001242809.2(ANKRD6):c.977C>T (p.Ser326Leu)	ANKRD6 (S291L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126925	NM_001242809.2(ANKRD6):c.986C>T (p.Pro329Leu)	ANKRD6 (P294L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060790	NM_001242809.2(ANKRD6):c.1041A>G (p.Ala347=)	ANKRD6	Single nucleotide variant (synonymous variant)	ANKRD6-related disorder	GBenign
Select item 2359505	NM_001242809.2(ANKRD6):c.1054A>G (p.Thr352Ala)	ANKRD6 (T293A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214823	NM_001242809.2(ANKRD6):c.1105A>C (p.Asn369His)	ANKRD6 (N310H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297947	NM_001242809.2(ANKRD6):c.1169C>T (p.Ala390Val)	ANKRD6 (A355V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396818	NM_001242809.2(ANKRD6):c.1171T>C (p.Tyr391His)	ANKRD6 (Y391H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460772	NM_001242809.2(ANKRD6):c.1192C>T (p.Arg398Trp)	ANKRD6 (R398W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126911	NM_001242809.2(ANKRD6):c.1193G>A (p.Arg398Gln)	ANKRD6 (R339Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126912	NM_001242809.2(ANKRD6):c.1238G>A (p.Arg413Gln)	ANKRD6 (R354Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292858	NM_001242809.2(ANKRD6):c.1279G>T (p.Ala427Ser)	ANKRD6 (A368S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398233	NM_001242809.2(ANKRD6):c.1324A>C (p.Lys442Gln)	ANKRD6 (K407Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454492	NM_001242809.2(ANKRD6):c.1337A>G (p.Lys446Arg)	ANKRD6 (K387R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244570	NM_001242809.2(ANKRD6):c.1361C>T (p.Thr454Ile)	ANKRD6 (T395I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709411	NM_001242809.2(ANKRD6):c.1372A>C (p.Met458Leu)	ANKRD6 (M423L +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2357965	NM_001242809.2(ANKRD6):c.1436G>A (p.Arg479His)	ANKRD6 (R420H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041419	NM_001242809.2(ANKRD6):c.1486-5_1486-4dup	ANKRD6	Duplication (intron variant)	ANKRD6-related disorder	GLikely benign
Select item 2219546	NM_001242809.2(ANKRD6):c.1494G>C (p.Leu498Phe)	ANKRD6 (L463F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212636	NM_001242809.2(ANKRD6):c.1499A>T (p.Asp500Val)	ANKRD6 (D500V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058844	NM_001242809.2(ANKRD6):c.1518C>T (p.Cys506=)	ANKRD6	Single nucleotide variant (synonymous variant)	ANKRD6-related disorder	GBenign
Select item 3297922	NM_001242809.2(ANKRD6):c.1567G>C (p.Ala523Pro)	ANKRD6 (A464P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058841	NM_001242809.2(ANKRD6):c.1648G>A (p.Ala550Thr)	ANKRD6 (A486T +3 more)	Single nucleotide variant (missense variant)	ANKRD6-related disorder	GBenign
Select item 3126913	NM_001242809.2(ANKRD6):c.1715A>C (p.Gln572Pro)	ANKRD6 (Q508P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059554	NM_001242809.2(ANKRD6):c.1737G>A (p.Ser579=)	ANKRD6	Single nucleotide variant (synonymous variant)	ANKRD6-related disorder	GBenign
Select item 2465051	NM_001242809.2(ANKRD6):c.1748G>A (p.Cys583Tyr)	ANKRD6 (C583Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126914	NM_001242809.2(ANKRD6):c.1770C>A (p.Asn590Lys)	ANKRD6 (N585K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126915	NM_001242809.2(ANKRD6):c.1807G>A (p.Ala603Thr)	ANKRD6 (A539T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060598	NM_001242809.2(ANKRD6):c.1907C>T (p.Pro636Leu)	ANKRD6 (P572L +3 more)	Single nucleotide variant (missense variant)	ANKRD6-related disorder	GBenign
Select item 717855	NM_001242809.2(ANKRD6):c.1908C>T (p.Pro636=)	ANKRD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3126916	NM_001242809.2(ANKRD6):c.1909G>A (p.Ala637Thr)	ANKRD6 (A602T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 730565	NM_001242809.2(ANKRD6):c.1915A>G (p.Ser639Gly)	ANKRD6 (S634G +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3297937	NM_001242809.2(ANKRD6):c.1975C>T (p.Arg659Trp)	ANKRD6 (R654W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3298013	NM_001242809.2(ANKRD6):c.1978G>A (p.Asp660Asn)	ANKRD6 (D660N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588690	NM_001242809.2(ANKRD6):c.2060T>C (p.Ile687Thr)	ANKRD6 (I623T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126917	NM_001242809.2(ANKRD6):c.2098C>A (p.Gln700Lys)	ANKRD6 (Q665K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709412	NM_001242809.2(ANKRD6):c.2106G>A (p.Lys702=)	ANKRD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3297968	NM_001242809.2(ANKRD6):c.2165G>A (p.Arg722Lys)	ANKRD6 (R687K +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3062943	GRCh37/hg19 6q15(chr6:90131062-90675512)x3	ANKRD6, BACH2 +4 more	Copy number gain	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 1527265	GRCh37/hg19 6q15(chr6:90189085-90697359)	ANKRD6, BACH2 +4 more	Copy number gain	not specified	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 1340233	GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1	ANKRD6, BACH2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 980216	GRCh37/hg19 6q15(chr6:90285430-90706261)x3	ANKRD6, BACH2 +4 more	Copy number gain	not provided	GUncertain significance

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