ClinVar for Gene (Select 122651) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314630	NM_001394190.1(RNASE11):c.464A>G (p.Asn155Ser)	RNASE11 (N155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3154841	NM_001394190.1(RNASE11):c.520G>A (p.Val174Ile)	RNASE11 (V174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154840	NM_001394190.1(RNASE11):c.484A>G (p.Thr162Ala)	RNASE11 (T162A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154839	NM_001394190.1(RNASE11):c.418G>T (p.Val140Leu)	RNASE11 (V140L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154838	NM_001394190.1(RNASE11):c.102G>C (p.Glu34Asp)	RNASE11 (E34D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2594821	NM_001394190.1(RNASE11):c.440G>A (p.Cys147Tyr)	RNASE11 (C147Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478797	NM_001394190.1(RNASE11):c.161A>G (p.Asn54Ser)	RNASE11 (N54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462409	NM_001394190.1(RNASE11):c.259A>C (p.Lys87Gln)	RNASE11 (K87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2383499	NM_001394190.1(RNASE11):c.385C>T (p.Arg129Cys)	RNASE11 (R129C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381177	NM_001394190.1(RNASE11):c.377A>G (p.Glu126Gly)	RNASE11 (E126G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374138	NM_001394190.1(RNASE11):c.76A>G (p.Ile26Val)	RNASE11 (I26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338666	NM_001394190.1(RNASE11):c.364C>A (p.Arg122Ser)	RNASE11 (R122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318301	NM_001394190.1(RNASE11):c.394C>T (p.His132Tyr)	RNASE11 (H132Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253729	NM_001394190.1(RNASE11):c.431G>T (p.Gly144Val)	RNASE11 (G144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219159	NM_001394190.1(RNASE11):c.272C>T (p.Ser91Leu)	RNASE11 (S91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217993	NM_001394190.1(RNASE11):c.364C>T (p.Arg122Cys)	RNASE11 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 980000	GRCh37/hg19 14q11.2(chr14:20511672-21915516)x1	ANG, APEX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 685568	GRCh37/hg19 14q11.2(chr14:20511672-21174548)x3	ANG, APEX1 +25 more	Copy number gain	not provided	GUncertain significance
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253894	GRCh37/hg19 14q11.2(chr14:20978713-21575128)x3	ANG, ARHGEF40 +25 more	Copy number gain	See cases	GUncertain significance
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59933	GRCh38/hg38 14q11.2(chr14:20127290-21376436)x3	ANG, APEX1 +119 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 43