ClinVar for Gene (Select 54929) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326835	NM_017814.3(TMEM161A):c.370T>C (p.Tyr124His)	TMEM161A (Y124H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3326833	NM_017814.3(TMEM161A):c.833T>A (p.Leu278Gln)	TMEM161A (L175Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178916	NM_017814.3(TMEM161A):c.88T>G (p.Trp30Gly)	TMEM161A (W30G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178915	NM_017814.3(TMEM161A):c.779C>T (p.Ser260Leu)	TMEM161A (S260L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178914	NM_017814.3(TMEM161A):c.570G>C (p.Glu190Asp)	TMEM161A (E165D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3178913	NM_017814.3(TMEM161A):c.490G>A (p.Gly164Arg)	TMEM161A (G139R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178912	NM_017814.3(TMEM161A):c.466C>T (p.Arg156Trp)	TMEM161A (R156W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178910	NM_017814.3(TMEM161A):c.185A>G (p.Glu62Gly)	TMEM161A (E62G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178909	NM_017814.3(TMEM161A):c.1342C>T (p.Arg448Cys)	TMEM161A (R423C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178908	NM_017814.3(TMEM161A):c.1339C>T (p.Leu447Phe)	TMEM161A (L344F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178905	NM_017814.3(TMEM161A):c.1043T>A (p.Leu348Gln)	TMEM161A (L245Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178904	NM_017814.3(TMEM161A):c.1019T>C (p.Leu340Pro)	TMEM161A (L237P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2604755	NM_017814.3(TMEM161A):c.155C>T (p.Ala52Val)	TMEM161A (A52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591065	NM_017814.3(TMEM161A):c.343G>A (p.Gly115Ser)	TMEM161A (G115S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508377	NM_017814.3(TMEM161A):c.938C>T (p.Ser313Phe)	TMEM161A (S210F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475436	NM_017814.3(TMEM161A):c.491G>T (p.Gly164Val)	TMEM161A (G164V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459380	NM_017814.3(TMEM161A):c.481G>A (p.Ala161Thr)	TMEM161A (A136T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454711	NM_017814.3(TMEM161A):c.890C>T (p.Pro297Leu)	TMEM161A (P194L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	LSM4, MAST3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2399880	NM_017814.3(TMEM161A):c.346G>A (p.Val116Met)	TMEM161A (V116M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397999	NM_017814.3(TMEM161A):c.274G>A (p.Val92Met)	TMEM161A (V92M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394505	NM_017814.3(TMEM161A):c.685G>T (p.Val229Leu)	TMEM161A (V204L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388227	NM_017814.3(TMEM161A):c.562C>T (p.Arg188Trp)	TMEM161A (R163W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372032	NM_017814.3(TMEM161A):c.577G>A (p.Glu193Lys)	TMEM161A (E193K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368850	NM_017814.3(TMEM161A):c.1324C>T (p.Leu442Phe)	TMEM161A (L417F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361212	NM_017814.3(TMEM161A):c.685G>A (p.Val229Met)	TMEM161A (V229M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343384	NM_017814.3(TMEM161A):c.682C>T (p.Arg228Cys)	TMEM161A (R125C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340394	NM_017814.3(TMEM161A):c.489G>C (p.Glu163Asp)	TMEM161A (E138D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322670	NM_017814.3(TMEM161A):c.761G>A (p.Arg254Gln)	TMEM161A (R151Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307655	NM_017814.3(TMEM161A):c.1223T>C (p.Leu408Pro)	TMEM161A (L305P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292939	NM_017814.3(TMEM161A):c.1288A>G (p.Thr430Ala)	TMEM161A (T405A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276495	NM_017814.3(TMEM161A):c.863T>C (p.Ile288Thr)	TMEM161A (I185T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263625	NM_017814.3(TMEM161A):c.245T>A (p.Phe82Tyr)	TMEM161A (F82Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233172	NM_017814.3(TMEM161A):c.91C>G (p.Leu31Val)	TMEM161A (L31V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228760	NM_017814.3(TMEM161A):c.242C>T (p.Pro81Leu)	TMEM161A (P81L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215317	NM_017814.3(TMEM161A):c.37C>T (p.Leu13Phe)	TMEM161A (L13F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214163	NM_017814.3(TMEM161A):c.464C>T (p.Thr155Ile)	TMEM161A (T130I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213490	NM_017814.3(TMEM161A):c.1216C>G (p.Pro406Ala)	TMEM161A (P381A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206777	NM_017814.3(TMEM161A):c.193G>T (p.Ala65Ser)	TMEM161A (A65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51