TMEM174[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 2488554	NM_153217.3(TMEM174):c.16G>A (p.Gly6Ser)	TMEM174 (G6S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3326850	NM_153217.3(TMEM174):c.67C>T (p.Pro23Ser)	TMEM174 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249369	NM_153217.3(TMEM174):c.107C>T (p.Ala36Val)	TMEM174 (A36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326851	NM_153217.3(TMEM174):c.199C>T (p.His67Tyr)	TMEM174 (H67Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300025	NM_153217.3(TMEM174):c.229G>A (p.Val77Ile)	TMEM174 (V77I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2486251	NM_153217.3(TMEM174):c.283A>G (p.Met95Val)	TMEM174 (M95V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350127	NM_153217.3(TMEM174):c.305A>G (p.Lys102Arg)	TMEM174 (K102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526581	NM_153217.3(TMEM174):c.341C>T (p.Thr114Ile)	TMEM174 (T114I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178963	NM_153217.3(TMEM174):c.428C>T (p.Pro143Leu)	TMEM174 (P143L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178964	NM_153217.3(TMEM174):c.493G>A (p.Gly165Ser)	TMEM174 (G165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178965	NM_153217.3(TMEM174):c.553A>T (p.Ile185Phe)	TMEM174 (I185F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390304	NM_153217.3(TMEM174):c.571T>C (p.Ser191Pro)	TMEM174 (S191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553001	NM_153217.3(TMEM174):c.586G>A (p.Asp196Asn)	TMEM174 (D196N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597132	NM_153217.3(TMEM174):c.632A>G (p.Asn211Ser)	TMEM174 (N211S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2384050	NM_153217.3(TMEM174):c.638A>T (p.Asp213Val)	TMEM174 (D213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382793	NM_153217.3(TMEM174):c.701C>A (p.Pro234His)	TMEM174 (P234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148880	GRCh37/hg19 5q12.3-13.2(chr5:64364710-72835471)x1	ADAMTS6, CDK7 +40 more	Copy number loss	See cases	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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Items: 23