11504[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 2284242	NM_003898.4(SYNJ2):c.10A>G (p.Ser4Gly)	SYNJ2 (S4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339971	NM_003898.4(SYNJ2):c.122C>T (p.Thr41Met)	SYNJ2 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238895	NM_003898.4(SYNJ2):c.179C>T (p.Ala60Val)	SYNJ2 (A60V)	Single nucleotide variant (5 prime UTR variant +1 more)	Meniere disease	GUncertain significance
Select item 2302578	NM_003898.4(SYNJ2):c.181T>A (p.Tyr61Asn)	SYNJ2 (Y61N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172801	NM_003898.4(SYNJ2):c.187T>A (p.Cys63Ser)	SYNJ2 (C63S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2233624	NM_003898.4(SYNJ2):c.268A>G (p.Arg90Gly)	SYNJ2 (R90G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172826	NM_003898.4(SYNJ2):c.434G>A (p.Arg145His)	SYNJ2 (R145H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172828	NM_003898.4(SYNJ2):c.502G>T (p.Val168Leu)	SYNJ2 (V168L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2298267	NM_003898.4(SYNJ2):c.530G>C (p.Cys177Ser)	SYNJ2 (C177S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2495485	NM_003898.4(SYNJ2):c.532T>C (p.Cys178Arg)	SYNJ2 (C178R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2547782	NM_003898.4(SYNJ2):c.535G>A (p.Asp179Asn)	SYNJ2 (D179N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3238896	NM_003898.4(SYNJ2):c.559G>A (p.Gly187Arg)	SYNJ2 (G187R)	Single nucleotide variant (5 prime UTR variant +1 more)	Meniere disease	GUncertain significance
Select item 3172830	NM_003898.4(SYNJ2):c.623G>A (p.Arg208His)	SYNJ2 (R208H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2589968	NM_003898.4(SYNJ2):c.638G>A (p.Arg213His)	SYNJ2 (R213H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3323953	NM_003898.4(SYNJ2):c.650G>A (p.Arg217His)	SYNJ2 (R217H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2403680	NM_003898.4(SYNJ2):c.763G>A (p.Val255Ile)	SYNJ2 (V255I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323955	NM_003898.4(SYNJ2):c.809A>C (p.His270Pro)	SYNJ2 (H270P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323961	NM_003898.4(SYNJ2):c.845C>T (p.Pro282Leu)	SYNJ2 (P45L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236397	NM_003898.4(SYNJ2):c.883T>C (p.Tyr295His)	SYNJ2 (Y58H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493677	NM_003898.4(SYNJ2):c.891G>T (p.Gln297His)	SYNJ2 (Q297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266064	NM_003898.4(SYNJ2):c.895G>A (p.Val299Met)	SYNJ2 (V299M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238897	NM_003898.4(SYNJ2):c.901G>A (p.Val301Met)	SYNJ2 (V301M +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 2486209	NM_003898.4(SYNJ2):c.905A>G (p.Asn302Ser)	SYNJ2 (N302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492892	NM_003898.4(SYNJ2):c.925G>A (p.Gly309Arg)	SYNJ2 (G309R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544236	NM_003898.4(SYNJ2):c.949T>G (p.Phe317Val)	SYNJ2 (F80V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172831	NM_003898.4(SYNJ2):c.979G>A (p.Ala327Thr)	SYNJ2 (A90T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172832	NM_003898.4(SYNJ2):c.994A>G (p.Met332Val)	SYNJ2 (M95V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172798	NM_003898.4(SYNJ2):c.1090T>G (p.Phe364Val)	SYNJ2 (F127V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353282	NM_003898.4(SYNJ2):c.1108G>T (p.Gly370Trp)	SYNJ2 (G133W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521709	NM_003898.4(SYNJ2):c.1126C>T (p.Arg376Cys)	SYNJ2 (R139C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778349	NM_003898.4(SYNJ2):c.1127+10G>A	SYNJ2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2412477	NM_003898.4(SYNJ2):c.1148G>A (p.Arg383Gln)	SYNJ2 (R383Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482842	NM_003898.4(SYNJ2):c.1259T>C (p.Val420Ala)	SYNJ2 (V420A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 3172799	NM_003898.4(SYNJ2):c.1361T>C (p.Val454Ala)	SYNJ2 (V217A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488817	NM_003898.4(SYNJ2):c.1384C>T (p.Arg462Trp)	SYNJ2 (R225W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509726	NM_003898.4(SYNJ2):c.1385G>C (p.Arg462Pro)	SYNJ2 (R225P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387895	NM_003898.4(SYNJ2):c.1397G>A (p.Arg466Gln)	SYNJ2 (R229Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457103	NM_003898.4(SYNJ2):c.1469A>G (p.Tyr490Cys)	SYNJ2 (Y253C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484079	NM_003898.4(SYNJ2):c.1513A>G (p.Thr505Ala)	SYNJ2 (T505A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371732	NM_003898.4(SYNJ2):c.1517C>T (p.Ala506Val)	SYNJ2 (A269V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527377	NM_003898.4(SYNJ2):c.1592G>A (p.Arg531Gln)	SYNJ2 (R294Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172800	NM_003898.4(SYNJ2):c.1600A>T (p.Met534Leu)	SYNJ2 (M534L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383874	NM_003898.4(SYNJ2):c.1631A>C (p.Gln544Pro)	SYNJ2 (Q307P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404285	NM_003898.4(SYNJ2):c.1637G>A (p.Arg546Gln)	SYNJ2 (R546Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657076	NM_003898.4(SYNJ2):c.1680C>T (p.Leu560=)	SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401100	NM_003898.4(SYNJ2):c.1708G>A (p.Asp570Asn)	SYNJ2 (D333N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657077	NM_003898.4(SYNJ2):c.1717+3G>A	SYNJ2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3323956	NM_003898.4(SYNJ2):c.1777G>T (p.Ala593Ser)	SYNJ2 (A593S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232401	NM_003898.4(SYNJ2):c.1849C>T (p.Arg617Cys)	LOC126859847, SYNJ2 (R617C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3238898	NM_003898.4(SYNJ2):c.1850G>A (p.Arg617His)	LOC126859847, SYNJ2 (R380H +1 more)	Single nucleotide variant (missense variant)	Meniere disease	GUncertain significance
Select item 725882	NM_003898.4(SYNJ2):c.1920A>G (p.Pro640=)	LOC126859847, SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3323958	NM_003898.4(SYNJ2):c.1937T>C (p.Ile646Thr)	LOC126859847, SYNJ2 (I646T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323959	NM_003898.4(SYNJ2):c.1939A>G (p.Arg647Gly)	LOC126859847, SYNJ2 (R647G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535474	NM_003898.4(SYNJ2):c.1957A>T (p.Thr653Ser)	SYNJ2 (T653S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323960	NM_003898.4(SYNJ2):c.1974G>C (p.Met658Ile)	SYNJ2 (M658I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488883	NM_003898.4(SYNJ2):c.1975G>A (p.Gly659Arg)	SYNJ2 (G422R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598690	NM_003898.4(SYNJ2):c.2057T>G (p.Leu686Arg)	SYNJ2 (L686R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388885	NM_003898.4(SYNJ2):c.2065G>A (p.Gly689Arg)	SYNJ2 (G689R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556831	NM_003898.4(SYNJ2):c.2087G>C (p.Arg696Pro)	SYNJ2 (R459P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172802	NM_003898.4(SYNJ2):c.2110A>G (p.Thr704Ala)	SYNJ2 (T467A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172803	NM_003898.4(SYNJ2):c.2116A>C (p.Lys706Gln)	SYNJ2 (K469Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172804	NM_003898.4(SYNJ2):c.2119C>T (p.Leu707Phe)	SYNJ2 (L707F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172805	NM_003898.4(SYNJ2):c.2153A>G (p.His718Arg)	SYNJ2 (H481R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172806	NM_003898.4(SYNJ2):c.2176G>A (p.Asp726Asn)	SYNJ2 (D489N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323954	NM_003898.4(SYNJ2):c.2230C>T (p.Arg744Cys)	SYNJ2 (R744C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308774	NM_003898.4(SYNJ2):c.2353G>A (p.Gly785Ser)	SYNJ2 (G548S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284971	NM_003898.4(SYNJ2):c.2386C>T (p.Arg796Cys)	SYNJ2 (R796C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172807	NM_003898.4(SYNJ2):c.2395G>A (p.Ala799Thr)	SYNJ2 (A562T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459491	NM_003898.4(SYNJ2):c.2447C>T (p.Thr816Ile)	SYNJ2 (T816I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323957	NM_003898.4(SYNJ2):c.2462A>G (p.Asn821Ser)	SYNJ2 (N821S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468651	NM_003898.4(SYNJ2):c.2525T>C (p.Leu842Pro)	SYNJ2 (L842P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412291	NM_003898.4(SYNJ2):c.2539C>T (p.Arg847Cys)	SYNJ2 (R610C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657078	NM_003898.4(SYNJ2):c.2544G>A (p.Ala848=)	SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 224079	NM_003898.4(SYNJ2):c.2557T>C (p.Ser853Pro)	SYNJ2 (S853P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172808	NM_003898.4(SYNJ2):c.2593G>A (p.Glu865Lys)	SYNJ2 (E865K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172809	NM_003898.4(SYNJ2):c.2621G>A (p.Arg874Gln)	SYNJ2 (R637Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588987	NM_003898.4(SYNJ2):c.2641G>T (p.Val881Leu)	SYNJ2 (V644L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557151	NM_003898.4(SYNJ2):c.2641G>C (p.Val881Leu)	SYNJ2 (V644L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657079	NM_003898.4(SYNJ2):c.2745C>T (p.Leu915=)	SYNJ2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3172811	NM_003898.4(SYNJ2):c.2750A>G (p.Gln917Arg)	SYNJ2 (Q917R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172812	NM_003898.4(SYNJ2):c.2813C>T (p.Thr938Ile)	SYNJ2 (T701I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344246	NM_003898.4(SYNJ2):c.2851G>A (p.Val951Met)	SYNJ2 (V951M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570421	NM_003898.4(SYNJ2):c.2924G>A (p.Arg975Gln)	SYNJ2 (R738Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375284	NM_003898.4(SYNJ2):c.2938C>T (p.Arg980Trp)	SYNJ2 (R980W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551555	NM_003898.4(SYNJ2):c.2947G>T (p.Asp983Tyr)	SYNJ2 (D746Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172813	NM_003898.4(SYNJ2):c.2957C>A (p.Ala986Asp)	SYNJ2 (A986D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172814	NM_003898.4(SYNJ2):c.2962G>C (p.Val988Leu)	SYNJ2 (V751L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248027	NM_003898.4(SYNJ2):c.3008T>G (p.Phe1003Cys)	SYNJ2 (F1003C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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