28905[HGNC] - ClinVar

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Items: 75

	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 2088759	NM_024640.4(YRDC):c.835C>T (p.Leu279=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964443	NM_024640.4(YRDC):c.828G>A (p.Ala276=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191634	NM_024640.4(YRDC):c.823C>T (p.His275Tyr)	YRDC (H275Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237256	NM_024640.4(YRDC):c.808G>A (p.Gly270Arg)	YRDC (G270R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2078998	NM_024640.4(YRDC):c.807C>T (p.Tyr269=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1321214	NM_024640.4(YRDC):c.791TCC[1] (p.Leu265del)	YRDC (L265del)	Microsatellite (inframe_deletion)	Galloway-Mowat syndrome 10	GPathogenic
Select item 2013336	NM_024640.4(YRDC):c.739G>A (p.Gly247Arg)	YRDC (G247R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2711852	NM_024640.4(YRDC):c.738C>T (p.Pro246=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2463055	NM_024640.4(YRDC):c.736C>T (p.Pro246Ser)	YRDC (P246S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3050897	NM_024640.4(YRDC):c.729G>A (p.Leu243=)	YRDC	Single nucleotide variant (synonymous variant)	YRDC-related disorder	GLikely benign
Select item 2480413	NM_024640.4(YRDC):c.729G>T (p.Leu243Phe)	YRDC (L243F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321213	NM_024640.4(YRDC):c.721_724del (p.Val241fs)	YRDC (V241fs)	Deletion (frameshift variant)	Galloway-Mowat syndrome 10	GPathogenic
Select item 2056039	NM_024640.4(YRDC):c.696C>T (p.Pro232=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2545943	NM_024640.4(YRDC):c.676A>C (p.Ile226Leu)	YRDC (I226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326869	NM_024640.4(YRDC):c.664G>A (p.Asp222Asn)	YRDC (D222N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1321215	NM_024640.4(YRDC):c.662T>C (p.Ile221Thr)	YRDC (I221T)	Single nucleotide variant (missense variant)	Galloway-Mowat syndrome 10	GPathogenic
Select item 2497825	NM_024640.4(YRDC):c.658G>A (p.Val220Ile)	YRDC (V220I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2796156	NM_024640.4(YRDC):c.624+13A>C	YRDC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3191633	NM_024640.4(YRDC):c.590A>G (p.Asn197Ser)	YRDC (N197S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2079302	NM_024640.4(YRDC):c.570G>T (p.Pro190=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2345108	NM_024640.4(YRDC):c.569C>T (p.Pro190Leu)	YRDC (P190L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1970918	NM_024640.4(YRDC):c.505-12C>T	YRDC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3191632	NM_024640.4(YRDC):c.500C>T (p.Thr167Met)	YRDC (T167M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2793925	NM_024640.4(YRDC):c.492C>T (p.Asn164=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896823	NM_024640.4(YRDC):c.474G>A (p.Glu158=)	YRDC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191631	NM_024640.4(YRDC):c.473A>G (p.Glu158Gly)	YRDC (E158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540664	NM_024640.4(YRDC):c.467C>T (p.Ser156Leu)	YRDC (S156L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333726	NM_024640.4(YRDC):c.463C>T (p.Arg155Cys)	YRDC (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044924	NM_024640.4(YRDC):c.457A>G (p.Met153Val)	YRDC (M153V)	Single nucleotide variant (missense variant)	YRDC-related disorder	GLikely benign
Select item 1972208	NM_024640.4(YRDC):c.389+12C>T	YRDC	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975884	NM_024640.4(YRDC):c.364C>T (p.Leu122Phe)	C1orf122, YRDC (L122F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2136221	NM_024640.4(YRDC):c.358G>C (p.Val120Leu)	C1orf122, YRDC (V120L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2874526	NM_024640.4(YRDC):c.357C>T (p.Ala119=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3046551	NM_024640.4(YRDC):c.324C>A (p.Arg108=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
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, LOC129930167 +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
Select item 2785554	NM_024640.4(YRDC):c.57G>T (p.Gly19=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2112500	NM_024640.4(YRDC):c.52G>A (p.Val18Met)	C1orf122, YRDC (V18M)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3036271	NM_024640.4(YRDC):c.36C>T (p.Ala12=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 2516799	NM_024640.4(YRDC):c.35C>T (p.Ala12Val)	C1orf122, YRDC (A12V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2867379	NM_024640.4(YRDC):c.27G>T (p.Gly9=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3333724	NM_024640.4(YRDC):c.17G>C (p.Arg6Pro)	C1orf122, YRDC (R6P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2062173	NM_024640.4(YRDC):c.13C>T (p.Arg5Cys)	C1orf122, YRDC (R5C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2788300	NM_024640.4(YRDC):c.12G>A (p.Ala4=)	YRDC, C1orf122	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1970922	NM_024640.4(YRDC):c.9G>C (p.Pro3=)	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 3047295	NM_024640.4(YRDC):c.7C>T (p.Pro3Ser)	C1orf122, YRDC (P3S)	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GUncertain significance
Select item 1971465	NM_024640.4(YRDC):c.5C>G (p.Ser2Cys)	C1orf122, YRDC (S2C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1974362	NM_024640.4(YRDC):c.2T>G (p.Met1Arg)	C1orf122, YRDC (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3035534	NM_024640.4(YRDC):c.-7T>C	C1orf122, YRDC	Single nucleotide variant (5 prime UTR variant)	YRDC-related disorder	GLikely benign
Select item 2426871	NC_000001.10:g.(?_38003349)_(38273852_?)dup	AIRIM, C1orf122 +8 more	Duplication	not provided	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 443349	GRCh37/hg19 1p34.3(chr1:37766562-38727114)x3	AIRIM, C1orf122 +16 more	Copy number gain	See cases	GLikely benign
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 75