LOC126807468[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 150860	GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1	ADGRV1, ARB2A +436 more	Copy number loss	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 149693	GRCh38/hg38 5q21.1-21.2(chr5:102812129-104230720)x3	GIN1, LINC02115 +15 more	Copy number gain	See cases	GLikely benign
Select item 785133	NM_001177306.2(PAM):c.2706C>T (p.Leu902=)	LOC126807468, PAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3208265	NM_001177306.2(PAM):c.2711C>A (p.Thr904Lys)	LOC126807468, PAM (T730K +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 763278	NM_001177306.2(PAM):c.2712G>A (p.Thr904=)	LOC126807468, PAM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3208266	NM_001177306.2(PAM):c.2737T>C (p.Phe913Leu)	LOC126807468, PAM (F738L +13 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2218138	NM_001177306.2(PAM):c.2781T>A (p.Phe927Leu)	LOC126807468, PAM (F770L +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219858	NM_001177306.2(PAM):c.2818C>T (p.Arg940Trp)	LOC126807468, PAM (R797W +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208267	NM_001177306.2(PAM):c.2850A>C (p.Lys950Asn)	LOC126807468, PAM (K775N +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 760328	NM_001177306.2(PAM):c.2871A>C (p.Ser957=)	LOC126807468, PAM	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3208268	NM_001177306.2(PAM):c.2905G>A (p.Ala969Thr)	LOC126807468, PAM (A795T +16 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance