ClinVar for Gene (Select 130612) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326911	NM_001005209.3(TMEM198):c.595C>A (p.Arg199Ser)	OBSL1, TMEM198 (R199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179086	NM_001005209.3(TMEM198):c.925A>G (p.Asn309Asp)	OBSL1, TMEM198 (N309D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179085	NM_001005209.3(TMEM198):c.70G>A (p.Ala24Thr)	TMEM198 (A24T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179084	NM_001005209.3(TMEM198):c.532G>A (p.Val178Met)	OBSL1, TMEM198 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179083	NM_001005209.3(TMEM198):c.218C>T (p.Ser73Leu)	OBSL1, TMEM198 (S73L)	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 2685878	GRCh37/hg19 2q35(chr2:220368252-221475943)x3	ASIC4, CHPF +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685877	GRCh37/hg19 2q35(chr2:220169575-220625221)x3	ASIC4, CHPF +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2614394	NM_001005209.3(TMEM198):c.575C>T (p.Ala192Val)	OBSL1, TMEM198 (A192V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595867	NM_001005209.3(TMEM198):c.608A>G (p.Glu203Gly)	OBSL1, TMEM198 (E203G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589072	NM_001005209.3(TMEM198):c.737C>T (p.Thr246Met)	OBSL1, TMEM198 (T246M)	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 2565906	NM_001005209.3(TMEM198):c.413C>T (p.Ala138Val)	OBSL1, TMEM198 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542565	NM_001005209.3(TMEM198):c.1070C>T (p.Pro357Leu)	OBSL1, TMEM198 (P357L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538080	NM_001005209.3(TMEM198):c.95G>A (p.Arg32His)	TMEM198 (R32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533685	NM_001005209.3(TMEM198):c.466G>A (p.Gly156Ser)	OBSL1, TMEM198 (G156S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520798	NM_001005209.3(TMEM198):c.700G>T (p.Val234Leu)	OBSL1, TMEM198 (V234L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462974	NM_001005209.3(TMEM198):c.497G>A (p.Arg166His)	OBSL1, TMEM198 (R166H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406026	NM_001005209.3(TMEM198):c.920G>A (p.Arg307His)	OBSL1, TMEM198 (R307H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397994	NM_001005209.3(TMEM198):c.496C>T (p.Arg166Cys)	OBSL1, TMEM198 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352270	NM_001005209.3(TMEM198):c.83A>G (p.Gln28Arg)	TMEM198 (Q28R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287947	NM_001005209.3(TMEM198):c.574G>T (p.Ala192Ser)	OBSL1, TMEM198 (A192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286314	NM_001005209.3(TMEM198):c.235C>T (p.Leu79Phe)	OBSL1, TMEM198 (L79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285837	NM_001005209.3(TMEM198):c.767G>A (p.Arg256His)	OBSL1, TMEM198 (R256H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243003	NM_001005209.3(TMEM198):c.781C>T (p.Arg261Trp)	OBSL1, TMEM198 (R261W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223148	NM_001005209.3(TMEM198):c.883G>T (p.Asp295Tyr)	OBSL1, TMEM198 (D295Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218432	NM_001005209.3(TMEM198):c.562G>A (p.Ala188Thr)	OBSL1, TMEM198 (A188T)	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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1434778	NC_000002.11:g.(?_218999525)_(220435954_?)dup	RNF25, SLC11A1 +50 more	Duplication	Alacrima, achalasia, and intellectual disability syndrome +1 more	GUncertain significance
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	GPathogenic
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 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
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 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	PTPRN, STK11IP +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
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 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 more	Copy number gain	See cases	GPathogenic
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 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
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 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 53