28459[HGNC] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 145615	GRCh38/hg38 17q21.31(chr17:43934167-44854025)x1	ADAM11, ASB16 +86 more	Copy number loss	See cases	GPathogenic
Select item 2322532	NM_001076674.3(TMUB2):c.119C>T (p.Ala40Val)	TMUB2 (A40V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487934	NM_001076674.3(TMUB2):c.125T>C (p.Val42Ala)	TMUB2 (V33A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180087	NM_001076674.3(TMUB2):c.230C>A (p.Ser77Tyr)	TMUB2 (S77Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390070	NM_001076674.3(TMUB2):c.289A>G (p.Thr97Ala)	TMUB2 (T77A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263626	NM_001076674.3(TMUB2):c.290C>A (p.Thr97Asn)	TMUB2 (T88N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251808	NM_001076674.3(TMUB2):c.410T>C (p.Leu137Pro)	TMUB2 (L137P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180088	NM_001076674.3(TMUB2):c.488A>G (p.Asp163Gly)	TMUB2 (D117G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3180089	NM_001076674.3(TMUB2):c.496T>C (p.Cys166Arg)	TMUB2 (C120R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245836	NM_001076674.3(TMUB2):c.515G>A (p.Gly172Asp)	TMUB2 (G152D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3180090	NM_001076674.3(TMUB2):c.526G>A (p.Val176Met)	TMUB2 (V119M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2455118	NM_001076674.3(TMUB2):c.532C>T (p.Leu178Phe)	TMUB2 (L132F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2464525	NM_001076674.3(TMUB2):c.545A>G (p.Asn182Ser)	TMUB2 (N125S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3180091	NM_001076674.3(TMUB2):c.553G>A (p.Glu185Lys)	TMUB2 (E185K +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2590286	NM_001076674.3(TMUB2):c.555G>T (p.Glu185Asp)	TMUB2 (E165D +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475806	NM_001076674.3(TMUB2):c.586G>A (p.Val196Met)	TMUB2 (V187M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458213	NM_001076674.3(TMUB2):c.673C>T (p.Arg225Cys)	TMUB2 (R205C +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2392143	NM_001076674.3(TMUB2):c.700G>A (p.Asp234Asn)	TMUB2 (D234N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2647821	NM_001076674.3(TMUB2):c.786G>A (p.Glu262=)	TMUB2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2280297	NM_001076674.3(TMUB2):c.880C>G (p.Gln294Glu)	TMUB2 (Q237E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411554	NM_001076674.3(TMUB2):c.902C>T (p.Thr301Ile)	TMUB2 (T244I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3180092	NM_001076674.3(TMUB2):c.925G>A (p.Val309Ile)	TMUB2 (V289I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1340600	GRCh37/hg19 17q21.31(chr17:42085508-42361563)x3	ASB16, ATXN7L3 +9 more	Copy number gain	not provided	GUncertain significance
Select item 832076	NC_000017.11:g.(?_44027807)_(44352876_?)dup	ASB16, ATXN7L3 +10 more	Duplication	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions +1 more	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 30