LOC129930167[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 1974518	NM_024640.4(YRDC):c.301G>C (p.Ala101Pro)	C1orf122, LOC129930167 +1 more (A101P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3029053	NM_024640.4(YRDC):c.294C>T (p.Ser98=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 2320802	NM_024640.4(YRDC):c.290C>T (p.Ala97Val)	C1orf122, LOC129930167 +1 more (A97V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3333723	NM_024640.4(YRDC):c.271T>C (p.Tyr91His)	C1orf122, LOC129930167 +1 more (Y91H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1321212	NM_024640.4(YRDC):c.251C>T (p.Ala84Val)	YRDC, C1orf122 +1 more (A84V)	Single nucleotide variant (5 prime UTR variant +1 more)	Galloway-Mowat syndrome 10	GPathogenic
Select item 3031282	NM_024640.4(YRDC):c.246G>A (p.Val82=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 2398155	NM_024640.4(YRDC):c.236C>A (p.Ala79Asp)	C1orf122, LOC129930167 +1 more (A79D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602721	NM_024640.4(YRDC):c.218C>A (p.Ala73Asp)	C1orf122, LOC129930167 +1 more (A73D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3055198	NM_024640.4(YRDC):c.210G>C (p.Leu70=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 2457447	NM_024640.4(YRDC):c.209T>C (p.Leu70Pro)	C1orf122, LOC129930167 +1 more (L70P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3029283	NM_024640.4(YRDC):c.177G>A (p.Ala59=)	C1orf122, YRDC +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 2093449	NM_024640.4(YRDC):c.171G>A (p.Gln57=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2523072	NM_024640.4(YRDC):c.170A>G (p.Gln57Arg)	C1orf122, LOC129930167 +1 more (Q57R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2867466	NM_024640.4(YRDC):c.165C>A (p.Ala55=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2611382	NM_024640.4(YRDC):c.144G>C (p.Leu48Phe)	C1orf122, LOC129930167 +1 more (L48F)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3036401	NM_024640.4(YRDC):c.129C>G (p.Pro43=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 3191630	NM_024640.4(YRDC):c.124G>A (p.Ala42Thr)	C1orf122, LOC129930167 +1 more (A42T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335574	NM_024640.4(YRDC):c.103C>T (p.Pro35Ser)	C1orf122, LOC129930167 +1 more (P35S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 20