ClinVar for Gene (Select 124995) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206635	NM_145255.4(MRPL10):c.756G>T (p.Lys252Asn)	MRPL10 (K262N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206633	NM_145255.4(MRPL10):c.731A>T (p.Asp244Val)	MRPL10 (D254V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206623	NM_145255.4(MRPL10):c.349C>T (p.Arg117Trp)	MRPL10 (R117W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206609	NM_145255.4(MRPL10):c.205C>T (p.Pro69Ser)	MRPL10 (P69S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3206602	NM_145255.4(MRPL10):c.101C>G (p.Thr34Ser)	MRPL10 (T34S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059980	NM_145255.4(MRPL10):c.373G>A (p.Val125Ile)	MRPL10 (V125I +1 more)	Single nucleotide variant (missense variant +1 more)	MRPL10-related disorder	GBenign
Select item 3052044	NM_145255.4(MRPL10):c.87C>T (p.Gly29=)	MRPL10	Single nucleotide variant (synonymous variant +1 more)	MRPL10-related disorder	GLikely benign
Select item 3039902	NM_145255.4(MRPL10):c.192C>T (p.Cys64=)	MRPL10	Single nucleotide variant (synonymous variant +1 more)	MRPL10-related disorder	GLikely benign
Select item 2592806	NM_145255.4(MRPL10):c.655C>T (p.His219Tyr)	MRPL10 (H219Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569829	NM_145255.4(MRPL10):c.240G>C (p.Arg80Ser)	MRPL10 (R90S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560576	NM_145255.4(MRPL10):c.721C>T (p.Arg241Cys)	MRPL10 (R241C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523357	NM_145255.4(MRPL10):c.215C>G (p.Pro72Arg)	MRPL10 (P82R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507913	NM_145255.4(MRPL10):c.292G>A (p.Val98Ile)	MRPL10 (V108I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506553	GRCh37/hg19 17q21.32(chr17:44949883-46507482)	CBX1, CDC27 +24 more	Copy number gain	PNPO-related disorder	GLikely pathogenic
Select item 2482629	NM_145255.4(MRPL10):c.172C>T (p.Pro58Ser)	MRPL10 (P58S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456649	NM_145255.4(MRPL10):c.668A>G (p.Gln223Arg)	MRPL10 (Q233R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328654	NM_145255.4(MRPL10):c.250C>T (p.Arg84Trp)	MRPL10 (R84W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312385	NM_145255.4(MRPL10):c.110G>A (p.Arg37His)	MRPL10 (R37H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279053	NM_145255.4(MRPL10):c.335T>C (p.Met112Thr)	MRPL10 (M112T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 564451	GRCh37/hg19 17q21.32(chr17:45884442-46124946)x3	PRR15L, SP6 +9 more	Copy number gain	not provided	GUncertain significance
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
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 221347	chr17:45008570..45994044 complex variant	CDC27, EFCAB13 +14 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 145638	GRCh38/hg38 17q21.32(chr17:47686487-47986961)x1	CDK5RAP3, LOC109286563 +26 more	Copy number loss	See cases	GUncertain significance
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 27