ClinVar for Gene (Select 150465) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3184506	NM_153712.5(TTL):c.590G>A (p.Arg197His)	TTL (R197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184505	NM_153712.5(TTL):c.496G>C (p.Ala166Pro)	LOC129934584, TTL (A166P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 2536388	NM_153712.5(TTL):c.136C>T (p.Arg46Trp)	TTL (R46W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527096	NM_153712.5(TTL):c.584G>C (p.Gly195Ala)	TTL (G195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489844	NM_153712.5(TTL):c.358A>G (p.Ile120Val)	TTL (I120V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2478008	NM_153712.5(TTL):c.428A>G (p.Glu143Gly)	TTL (E143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339619	NM_153712.5(TTL):c.176T>G (p.Val59Gly)	TTL (V59G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279572	NM_153712.5(TTL):c.814A>T (p.Thr272Ser)	TTL (T272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256313	NM_153712.5(TTL):c.341A>G (p.Asn114Ser)	TTL (N114S)	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 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526888	GRCh37/hg19 2q13-14.3(chr2:113188197-128144700)	ACTR3, BIN1 +51 more	Copy number loss	not specified	GPathogenic
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 788847	NM_153712.5(TTL):c.435C>T (p.Asn145=)	TTL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775753	NM_153712.5(TTL):c.237-9A>T	TTL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774409	NM_153712.5(TTL):c.397G>A (p.Ala133Thr)	TTL (A133T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770130	NM_153712.5(TTL):c.603C>T (p.Ile201=)	TTL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 625831	GRCh37/hg19 2q13(chr2:111395603-113251000)	ACOXL, ANAPC1 +9 more	Copy number loss	not provided	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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 253673	GRCh37/hg19 2q12.2-14.1(chr2:106423310-115054828)x1	BUB1, PSD4 +53 more	Copy number loss	See cases	GPathogenic
Select item 253541	GRCh37/hg19 2q12.3-14.1(chr2:109556627-117570152)x1	TMEM87B, IL37 +40 more	Copy number loss	See cases	GPathogenic
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic
Select item 226183	GRCh37/hg19 2q13(chr2:111186302-113273657)	TTL, BCL2L11 +11 more	Copy number gain	Abnormal esophagus morphology	GLikely pathogenic

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Links from Gene

Items: 28