30329[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 59663	GRCh38/hg38 10p13(chr10:14844417-15150430)x3	RPP38-DT, SUV39H2 +23 more	Copy number gain	See cases	GPathogenic
Select item 2307074	NM_183005.5(RPP38):c.29G>A (p.Arg10Gln)	RPP38 (R10Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272393	NM_183005.5(RPP38):c.46A>G (p.Thr16Ala)	RPP38 (T16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156150	NM_183005.5(RPP38):c.75G>C (p.Leu25Phe)	RPP38 (L25F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304244	NM_183005.5(RPP38):c.102C>A (p.Ser34Arg)	RPP38 (S34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240206	NM_183005.5(RPP38):c.115G>A (p.Glu39Lys)	RPP38 (E39K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477833	NM_183005.5(RPP38):c.127T>G (p.Phe43Val)	RPP38 (F43V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315255	NM_183005.5(RPP38):c.182A>C (p.Glu61Ala)	RPP38 (E61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282389	NM_183005.5(RPP38):c.230G>A (p.Arg77Lys)	RPP38 (R77K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331234	NM_183005.5(RPP38):c.290C>G (p.Ala97Gly)	RPP38 (A97G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2287752	NM_183005.5(RPP38):c.292A>C (p.Lys98Gln)	RPP38 (K98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156148	NM_183005.5(RPP38):c.302T>C (p.Val101Ala)	RPP38 (V101A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156149	NM_183005.5(RPP38):c.382G>A (p.Glu128Lys)	RPP38 (E128K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298355	NM_183005.5(RPP38):c.400G>T (p.Val134Leu)	RPP38 (V134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301003	NM_183005.5(RPP38):c.421G>A (p.Ala141Thr)	RPP38 (A141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333149	NM_183005.5(RPP38):c.447G>T (p.Gln149His)	RPP38 (Q149H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222153	NM_183005.5(RPP38):c.450A>T (p.Leu150Phe)	RPP38 (L150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463349	NM_183005.5(RPP38):c.487C>T (p.Arg163Trp)	RPP38 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315256	NM_183005.5(RPP38):c.490C>T (p.Leu164Phe)	RPP38 (L164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256841	NM_183005.5(RPP38):c.497A>G (p.Glu166Gly)	RPP38 (E166G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356806	NM_183005.5(RPP38):c.511G>A (p.Val171Ile)	RPP38 (V171I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315258	NM_183005.5(RPP38):c.685A>G (p.Arg229Gly)	RPP38 (R229G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477607	NM_183005.5(RPP38):c.746G>C (p.Gly249Ala)	RPP38 (G249A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768349	NM_183005.5(RPP38):c.766T>C (p.Leu256=)	RPP38	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3156151	NM_183005.5(RPP38):c.837A>T (p.Lys279Asn)	RPP38 (K279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1527577	GRCh37/hg19 10p15.1-11.21(chr10:6273934-34732521)	ABI1, ACBD5 +111 more	Copy number gain	not specified	GPathogenic
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1047870	GRCh37/hg19 10p14-13(chr10:9137489-17227168)	ACBD7, BEND7 +36 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 43