ClinVar for Gene (Select 57583) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2597942	NM_001376852.1(TMEM181):c.1022G>A (p.Arg341Gln)	TMEM181 (R341Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592827	NM_001376855.1(TMEM181):c.-88C>T	TMEM181 (P10S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	AFDN, AGPAT4 +54 more	Copy number gain	not provided	GUncertain significance
Select item 2556201	NM_001376852.1(TMEM181):c.1385A>G (p.Gln462Arg)	TMEM181 (Q462R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2521426	NM_001376852.1(TMEM181):c.800T>C (p.Val267Ala)	TMEM181 (V240A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492270	NM_020823.1(TMEM181):c.94G>T (p.Ala32Ser)	TMEM181 (A32S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485967	NM_001376852.1(TMEM181):c.718G>T (p.Gly240Trp)	TMEM181 (G248W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482315	NM_020823.2(TMEM181):c.-78T>A	TMEM181	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GLikely benign
Select item 2474686	NM_001376852.1(TMEM181):c.77T>C (p.Ile26Thr)	TMEM181 (I26T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2473909	NM_001376852.1(TMEM181):c.1358A>G (p.Tyr453Cys)	TMEM181 (Y421C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 2406544	NM_001376852.1(TMEM181):c.1114G>A (p.Ala372Thr)	TMEM181 (A372T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397585	NM_001376852.1(TMEM181):c.1040G>A (p.Arg347His)	TMEM181 (R315H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396110	NM_001376852.1(TMEM181):c.383A>C (p.Lys128Thr)	TMEM181 (K128T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387261	NM_001376852.1(TMEM181):c.964G>A (p.Val322Ile)	TMEM181 (V290I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2384416	NM_020823.1(TMEM181):c.129T>G (p.Ser43Arg)	TMEM181 (S43R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380370	NM_001376852.1(TMEM181):c.266C>A (p.Ser89Tyr)	TMEM181 (S8Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2376006	NM_001376852.1(TMEM181):c.1393C>T (p.Arg465Trp)	TMEM181 (R438W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2375874	NM_020823.2(TMEM181):c.-17C>A	TMEM181	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2375153	NM_020823.1(TMEM181):c.67A>C (p.Thr23Pro)	TMEM181 (T23P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355499	NM_001376852.1(TMEM181):c.32C>T (p.Thr11Met)	TMEM181 (T52M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2352428	NM_001376852.1(TMEM181):c.44G>A (p.Arg15His)	TMEM181 (R56H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2318977	NM_001376852.1(TMEM181):c.20T>C (p.Met7Thr)	TMEM181 (M48T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2294433	NM_001376852.1(TMEM181):c.466C>T (p.Leu156Phe)	TMEM181 (L75F +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246729	NM_001376855.1(TMEM181):c.-25A>C	TMEM181 (K31Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207842	NM_001376852.1(TMEM181):c.967T>G (p.Phe323Val)	TMEM181 (F242V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204988	NM_001376852.1(TMEM181):c.1232A>G (p.Tyr411Cys)	TMEM181 (Y330C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1708184	GRCh37/hg19 6q25.3-27(chr6:157318401-165233548)x1	MAS1, MRPL18 +33 more	Copy number loss	See cases	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 774648	NM_001376852.1(TMEM181):c.796C>T (p.Arg266Cys)	TMEM181 (R266C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +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
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	LOC129997603, LOC129997604 +115 more	Copy number gain	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	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 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	LOC115308161, LOC116183076 +288 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	LOC126859863, LOC126859864 +270 more	Copy number loss	See cases	GPathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	LOC126859906, LOC126859907 +539 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	TMEM242, TMEM242-DT +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 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 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52