15587[HGNC] - ClinVar

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Items: 68

	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 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 153297	GRCh38/hg38 6q25.3(chr6:158174555-158762476)x3	DYNLT1, GTF2H5 +30 more	Copy number gain	See cases	GLikely benign
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 2392796	NM_001242394.2(SYTL3):c.20T>A (p.Leu7Gln)	SYTL3 (L7Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173111	NM_001242394.2(SYTL3):c.48G>C (p.Glu16Asp)	SYTL3 (E16D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324103	NM_001242394.2(SYTL3):c.71G>A (p.Arg24Gln)	SYTL3 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173103	NM_001242394.2(SYTL3):c.109C>T (p.Arg37Trp)	SYTL3 (R37W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208554	NM_001242394.2(SYTL3):c.191C>T (p.Ala64Val)	SYTL3 (A64V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173109	NM_001242394.2(SYTL3):c.200A>G (p.Gln67Arg)	SYTL3 (Q67R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173110	NM_001242394.2(SYTL3):c.230G>A (p.Gly77Asp)	SYTL3 (G77D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209977	NM_001242394.2(SYTL3):c.257G>A (p.Arg86His)	SYTL3 (R86H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606200	NM_001242394.2(SYTL3):c.266C>T (p.Ala89Val)	SYTL3 (A89V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324102	NM_001242394.2(SYTL3):c.275G>A (p.Arg92Gln)	SYTL3 (R92Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231110	NM_001242394.2(SYTL3):c.322G>C (p.Glu108Gln)	SYTL3 (E108Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489171	NM_001242394.2(SYTL3):c.470C>T (p.Thr157Ile)	SYTL3 (T157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614836	NM_001242394.2(SYTL3):c.611A>G (p.Gln204Arg)	SYTL3 (Q204R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3173112	NM_001242394.2(SYTL3):c.616G>A (p.Asp206Asn)	SYTL3 (D206N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521069	NM_001242394.2(SYTL3):c.701C>T (p.Ala234Val)	SYTL3 (A234V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311738	NM_001242394.2(SYTL3):c.772T>C (p.Cys258Arg)	SYTL3 (C190R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173113	NM_001242394.2(SYTL3):c.821C>T (p.Ala274Val)	SYTL3 (A206V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227257	NM_001242394.2(SYTL3):c.845G>T (p.Gly282Val)	SYTL3 (G214V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546101	NM_001242394.2(SYTL3):c.874G>A (p.Asp292Asn)	SYTL3 (D224N +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603597	NM_001242394.2(SYTL3):c.941T>C (p.Ile314Thr)	SYTL3 (I108T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173114	NM_001242394.2(SYTL3):c.950G>T (p.Cys317Phe)	SYTL3 (C249F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291022	NM_001242394.2(SYTL3):c.1169G>A (p.Arg390Gln)	SYTL3 (R390Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173104	NM_001242394.2(SYTL3):c.1187T>C (p.Val396Ala)	SYTL3 (V190A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173105	NM_001242394.2(SYTL3):c.1286G>A (p.Arg429His)	SYTL3 (R429H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324096	NM_001242394.2(SYTL3):c.1295C>T (p.Pro432Leu)	SYTL3 (P364L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173106	NM_001242394.2(SYTL3):c.1310C>T (p.Ala437Val)	SYTL3 (A437V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324098	NM_001242394.2(SYTL3):c.1321G>A (p.Glu441Lys)	SYTL3 (E441K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249518	NM_001242394.2(SYTL3):c.1330G>A (p.Val444Ile)	SYTL3 (V376I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657092	NM_001242394.2(SYTL3):c.1377C>T (p.Leu459=)	SYTL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2409285	NM_001242394.2(SYTL3):c.1384C>T (p.Arg462Trp)	SYTL3 (R462W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324101	NM_001242394.2(SYTL3):c.1466C>T (p.Ala489Val)	SYTL3 (A283V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173107	NM_001242394.2(SYTL3):c.1477C>T (p.Pro493Ser)	SYTL3 (P425S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173108	NM_001242394.2(SYTL3):c.1589A>C (p.Gln530Pro)	SYTL3 (Q530P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542190	NM_001242394.2(SYTL3):c.1628C>G (p.Ala543Gly)	SYTL3 (A475G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268042	NM_001242394.2(SYTL3):c.1660G>T (p.Val554Phe)	SYTL3 (V554F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324099	NM_001242394.2(SYTL3):c.1668T>A (p.Asp556Glu)	SYTL3 (D488E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324100	NM_001242394.2(SYTL3):c.1669C>A (p.Gln557Lys)	SYTL3 (Q351K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364257	NM_001242394.2(SYTL3):c.1670A>C (p.Gln557Pro)	SYTL3 (Q351P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324097	NM_001242394.2(SYTL3):c.1690G>A (p.Asp564Asn)	SYTL3 (D358N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457126	NM_001242394.2(SYTL3):c.1778A>C (p.Gln593Pro)	SYTL3 (Q593P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	LPA, MAP3K4 +26 more	Deletion	not provided	GPathogenic
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	GPathogenic
Select item 1703663	GRCh37/hg19 6q25.3-27(chr6:159121459-170919482)	ACAT2, AFDN +55 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1527317	GRCh37/hg19 6q25.3(chr6:158392800-159229197)	DYNLT1, EZR +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527310	GRCh37/hg19 6q25.3(chr6:155525920-159889169)	ARID1B, CLDN20 +18 more	Copy number loss	not specified	GPathogenic
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1437902	NC_000006.11:g.(?_158532398)_(160114199_?)dup	DYNLT1, EZR +10 more	Duplication	Primary ciliary dyskinesia 32	GUncertain significance
Select item 687358	GRCh37/hg19 6q25.3(chr6:157262571-160992289)x3	ACAT2, AIRN +27 more	Copy number gain	not provided	GUncertain significance
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	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 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic

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Items: 68