ClinVar for Gene (Select 390443) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154860	NM_001110356.2(RNASE9):c.563C>G (p.Pro188Arg)	RNASE9 (P188R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154859	NM_001110356.2(RNASE9):c.490C>T (p.Leu164Phe)	RNASE9 (L164F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154858	NM_001110356.2(RNASE9):c.149T>G (p.Phe50Cys)	RNASE9 (F50C +1 more)	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 2589955	NM_001110356.2(RNASE9):c.199C>T (p.Arg67Cys)	RNASE9 (R73C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496425	NM_001110356.2(RNASE9):c.415G>A (p.Val139Met)	RNASE9 (V139M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	PNP, RNASE12 +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 2385264	NM_001110356.2(RNASE9):c.575G>A (p.Ser192Asn)	RNASE9 (S193N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375156	NM_001110356.2(RNASE9):c.328G>A (p.Glu110Lys)	RNASE9 (E111K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374850	NM_001110356.2(RNASE9):c.260T>G (p.Met87Arg)	RNASE9 (M93R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364514	NM_001110356.2(RNASE9):c.527G>A (p.Arg176His)	RNASE9 (R177H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315073	NM_001110356.2(RNASE9):c.238G>C (p.Glu80Gln)	RNASE9 (E81Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305821	NM_001110356.2(RNASE9):c.518T>C (p.Met173Thr)	RNASE9 (M174T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304606	NM_001110356.2(RNASE9):c.82G>A (p.Val28Met)	RNASE9 (V29M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304303	NM_001110356.2(RNASE9):c.176C>G (p.Pro59Arg)	RNASE9 (P60R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244165	NM_001110356.2(RNASE9):c.212A>G (p.Glu71Gly)	RNASE9 (E77G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226513	NM_001110356.2(RNASE9):c.526C>T (p.Arg176Cys)	RNASE9 (R177C +2 more)	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)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +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	LOC125048431, LOC125048432 +3280 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	FSCB, FUT8 +3275 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: 41