LRRC3C[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 154398	GRCh38/hg38 17q21.1(chr17:39876786-40048205)x1	CSF3, GSDMA +15 more	Copy number loss	See cases	GUncertain significance
Select item 3120680	NM_001195545.2(LRRC3C):c.86T>C (p.Leu29Pro)	LRRC3C (L29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219499	NM_001195545.2(LRRC3C):c.94C>A (p.Leu32Ile)	LRRC3C (L32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322052	NM_001195545.2(LRRC3C):c.116G>A (p.Gly39Glu)	LRRC3C (G39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291627	NM_001195545.2(LRRC3C):c.175G>C (p.Gly59Arg)	LRRC3C (G59R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374507	NM_001195545.2(LRRC3C):c.178G>A (p.Glu60Lys)	LRRC3C (E60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343387	NM_001195545.2(LRRC3C):c.181C>T (p.Arg61Trp)	LRRC3C (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120676	NM_001195545.2(LRRC3C):c.226G>A (p.Gly76Ser)	LRRC3C (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291628	NM_001195545.2(LRRC3C):c.244C>T (p.Arg82Cys)	LRRC3C (R82C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211182	NM_001195545.2(LRRC3C):c.319G>A (p.Glu107Lys)	LRRC3C (E107K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392702	NM_001195545.2(LRRC3C):c.361G>T (p.Ala121Ser)	LRRC3C (A121S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508924	NM_001195545.2(LRRC3C):c.362C>T (p.Ala121Val)	LRRC3C (A121V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120677	NM_001195545.2(LRRC3C):c.371A>T (p.Gln124Leu)	LRRC3C (Q124L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291629	NM_001195545.2(LRRC3C):c.433G>A (p.Val145Met)	LRRC3C (V145M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217697	NM_001195545.2(LRRC3C):c.502C>T (p.Leu168Phe)	LRRC3C (L168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291630	NM_001195545.2(LRRC3C):c.523G>C (p.Val175Leu)	LRRC3C (V175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120679	NM_001195545.2(LRRC3C):c.575G>T (p.Arg192Leu)	LRRC3C (R192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3120678	NM_001195545.2(LRRC3C):c.575G>A (p.Arg192Gln)	LRRC3C (R192Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354198	NM_001195545.2(LRRC3C):c.586G>A (p.Val196Met)	LRRC3C (V196M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389693	NM_001195545.2(LRRC3C):c.641G>T (p.Trp214Leu)	LRRC3C (W214L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487808	NM_001195545.2(LRRC3C):c.688G>A (p.Gly230Arg)	LRRC3C (G230R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340019	NM_001195545.2(LRRC3C):c.701C>T (p.Thr234Ile)	LRRC3C (T234I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538804	NM_001195545.2(LRRC3C):c.747T>G (p.Asp249Glu)	LRRC3C (D249E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 31