ClinVar for Gene (Select 92691) - ClinVar

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Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326844	NM_001142311.2(TMEM169):c.444G>C (p.Met148Ile)	TMEM169 (M148I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178949	NM_001142311.2(TMEM169):c.739G>A (p.Asp247Asn)	TMEM169 (D247N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2622558	NM_001142311.2(TMEM169):c.51C>A (p.His17Gln)	TMEM169 (H17Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612079	NM_001142311.2(TMEM169):c.752G>C (p.Gly251Ala)	TMEM169 (G251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602192	NM_001142311.2(TMEM169):c.887C>T (p.Thr296Met)	TMEM169 (T296M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593077	NM_001142311.2(TMEM169):c.73G>A (p.Val25Met)	TMEM169 (V25M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2535476	NM_001142311.2(TMEM169):c.843C>G (p.Ser281Arg)	TMEM169 (S281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533243	NM_001142311.2(TMEM169):c.643C>T (p.Pro215Ser)	TMEM169 (P215S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527035	NM_001142311.2(TMEM169):c.851C>G (p.Ser284Cys)	TMEM169 (S284C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526741	NM_001142311.2(TMEM169):c.166C>G (p.Arg56Gly)	TMEM169 (R56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519506	NM_001142311.2(TMEM169):c.119G>A (p.Arg40Lys)	TMEM169 (R40K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518176	NM_001142311.2(TMEM169):c.89C>T (p.Ala30Val)	TMEM169 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493343	NM_001142311.2(TMEM169):c.265G>A (p.Asp89Asn)	TMEM169 (D89N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477841	NM_001142311.2(TMEM169):c.748A>G (p.Lys250Glu)	TMEM169 (K250E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473841	NM_001142311.2(TMEM169):c.295A>G (p.Ser99Gly)	TMEM169 (S99G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395452	NM_001142311.2(TMEM169):c.491C>A (p.Thr164Lys)	TMEM169 (T164K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360246	NM_001142311.2(TMEM169):c.199G>A (p.Gly67Arg)	TMEM169 (G67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360046	NM_001142311.2(TMEM169):c.646G>T (p.Val216Leu)	TMEM169 (V216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354960	NM_001142311.2(TMEM169):c.167G>T (p.Arg56Leu)	TMEM169 (R56L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341292	NM_001142311.2(TMEM169):c.729A>T (p.Gln243His)	TMEM169 (Q243H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330306	NM_001142311.2(TMEM169):c.115C>T (p.His39Tyr)	TMEM169 (H39Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322457	NM_001142311.2(TMEM169):c.445G>C (p.Ala149Pro)	TMEM169 (A149P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301102	NM_001142311.2(TMEM169):c.436G>A (p.Gly146Arg)	TMEM169 (G146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279725	NM_001142311.2(TMEM169):c.338A>G (p.Lys113Arg)	TMEM169 (K113R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248522	NM_001142311.2(TMEM169):c.863C>G (p.Pro288Arg)	TMEM169 (P288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238627	NM_001142311.2(TMEM169):c.742A>G (p.Met248Val)	TMEM169 (M248V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222048	NM_001142311.2(TMEM169):c.654C>G (p.Ile218Met)	TMEM169 (I218M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221619	NM_001142311.2(TMEM169):c.704C>T (p.Ser235Leu)	TMEM169 (S235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208257	NM_001142311.2(TMEM169):c.329G>A (p.Arg110Gln)	TMEM169 (R110Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1340964	GRCh37/hg19 2q35(chr2:216802244-217200292)x3	MARCHF4, MREG +3 more	Copy number gain	not provided	GUncertain significance
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 980004	GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1	AAMP, ABCA12 +66 more	Copy number loss	not provided	GLikely pathogenic
Select item 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 687628	GRCh37/hg19 2q35(chr2:216937755-217001750)x3	PECR, TMEM169 +1 more	Copy number gain	not provided	GUncertain significance
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562677	GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3	AAMP, ABCA12 +60 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 221795	GRCh37/hg19 2q35(chr2:216629374-217251859)x3	XRCC5, PECR +3 more	Copy number gain	Premature ovarian failure	GUncertain significance
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 150323	GRCh38/hg38 2q35(chr2:215908412-216680325)x3	IGFBP2, IGFBP5 +40 more	Copy number gain	See cases	GLikely benign
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 52