ClinVar for Gene (Select 126364) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3120480	NM_145256.3(LRRC25):c.674G>A (p.Ser225Asn)	LRRC25 (S225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120479	NM_145256.3(LRRC25):c.662A>G (p.Tyr221Cys)	LRRC25 (Y221C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120478	NM_145256.3(LRRC25):c.638C>G (p.Pro213Arg)	LRRC25 (P213R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120477	NM_145256.3(LRRC25):c.601C>G (p.Leu201Val)	LRRC25 (L201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120476	NM_145256.3(LRRC25):c.589A>G (p.Arg197Gly)	LRRC25 (R197G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120475	NM_145256.3(LRRC25):c.581G>A (p.Arg194Gln)	LRRC25 (R194Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120474	NM_145256.3(LRRC25):c.472G>A (p.Ala158Thr)	LRRC25 (A158T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120473	NM_145256.3(LRRC25):c.35C>T (p.Pro12Leu)	LRRC25 (P12L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3120472	NM_145256.3(LRRC25):c.34C>A (p.Pro12Thr)	LRRC25 (P12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120471	NM_145256.3(LRRC25):c.301G>A (p.Asp101Asn)	LRRC25 (D101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619740	NM_145256.3(LRRC25):c.86C>T (p.Ser29Phe)	LRRC25 (S29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608923	NM_145256.3(LRRC25):c.802G>A (p.Asp268Asn)	LRRC25 (D268N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562250	NM_145256.3(LRRC25):c.675C>A (p.Ser225Arg)	LRRC25 (S225R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547804	NM_145256.3(LRRC25):c.352T>C (p.Cys118Arg)	LRRC25 (C118R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539118	NM_145256.3(LRRC25):c.685C>G (p.Pro229Ala)	LRRC25 (P229A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467620	NM_145256.3(LRRC25):c.722A>G (p.Asp241Gly)	LRRC25 (D241G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2334938	NM_145256.3(LRRC25):c.686C>T (p.Pro229Leu)	LRRC25 (P229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271622	NM_145256.3(LRRC25):c.164A>G (p.Asn55Ser)	LRRC25 (N55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260906	NM_145256.3(LRRC25):c.658C>T (p.Arg220Trp)	LRRC25 (R220W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245399	NM_145256.3(LRRC25):c.298G>A (p.Val100Met)	LRRC25 (V100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213813	NM_145256.3(LRRC25):c.430A>G (p.Ser144Gly)	LRRC25 (S144G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526658	GRCh37/hg19 19p13.11(chr19:18327675-18543341)	GDF15, IQCN +6 more	Copy number gain	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 787486	NM_145256.3(LRRC25):c.700C>A (p.Pro234Thr)	LRRC25 (P234T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 33