ClinVar for Gene (Select 29093) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207188	NM_014180.4(MRPL22):c.82T>G (p.Leu28Val)	MRPL22 (L28V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207168	NM_014180.4(MRPL22):c.262A>G (p.Ile88Val)	MRPL22 (I88V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685181	GRCh37/hg19 5q33.2(chr5:154312033-154394810)x1	GEMIN5, KIF4B +1 more	Copy number loss	not provided	GUncertain significance
Select item 2673036	NM_014180.4(MRPL22):c.78-4A>G	MRPL22	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2655981	NM_014180.4(MRPL22):c.72C>T (p.Ala24=)	MRPL22	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2622648	NM_014180.4(MRPL22):c.208T>C (p.Cys70Arg)	MRPL22 (C70R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2495598	NM_014180.4(MRPL22):c.248A>T (p.Tyr83Phe)	MRPL22 (Y3F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403435	NM_014180.4(MRPL22):c.431G>A (p.Gly144Asp)	MRPL22 (G144D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394890	NM_014180.4(MRPL22):c.281A>G (p.Asp94Gly)	MRPL22 (D14G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369109	NM_014180.4(MRPL22):c.554C>T (p.Thr185Met)	MRPL22 (T105M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367727	NM_014180.4(MRPL22):c.469C>T (p.Arg157Cys)	MRPL22 (R157C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263521	NM_014180.4(MRPL22):c.185G>A (p.Arg62Gln)	MRPL22 (R62Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228527	NM_014180.4(MRPL22):c.445C>T (p.Arg149Cys)	MRPL22 (R149C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 814755	GRCh37/hg19 5q33.2(chr5:154339640-154458963)x1	KIF4B, MRPL22	Copy number loss	not provided	GUncertain significance
Select item 814754	GRCh37/hg19 5q33.2(chr5:154117774-154339494)x1	FAXDC2, CNOT8 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686948	GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1	CNOT8, FAXDC2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 28