ClinVar for Gene (Select 29992) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3213063	NM_013439.3(PILRA):c.906G>C (p.Lys302Asn)	PILRA (K229N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213061	NM_013439.3(PILRA):c.576A>G (p.Ile192Met)	PILRA (I192M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3213060	NM_013439.3(PILRA):c.143C>T (p.Ser48Phe)	PILRA (S48F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 2569998	NM_013439.3(PILRA):c.883G>A (p.Glu295Lys)	PILRA (E295K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567871	NM_013439.3(PILRA):c.802G>T (p.Val268Phe)	PILRA (V195F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567682	NM_013439.3(PILRA):c.802G>A (p.Val268Ile)	PILRA (V268I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464330	NM_013439.3(PILRA):c.740A>C (p.Glu247Ala)	PILRA (E174A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	TRAPPC14, TRIM4 +79 more	Duplication	not provided	GUncertain significance
Select item 2382532	NM_013439.3(PILRA):c.442T>A (p.Ser148Thr)	PILRA (S148T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2354977	NM_013439.3(PILRA):c.728A>G (p.Glu243Gly)	PILRA (E170G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353351	NM_013439.3(PILRA):c.713C>T (p.Pro238Leu)	PILRA (P238L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330107	NM_013439.3(PILRA):c.682C>T (p.Arg228Trp)	PILRA (R228W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323588	NM_013439.3(PILRA):c.203G>A (p.Arg68Lys)	LOC129998933, PILRA (R68K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268714	NM_013439.3(PILRA):c.424A>T (p.Ile142Phe)	PILRA (I142F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206773	NM_013439.3(PILRA):c.898G>A (p.Val300Ile)	PILRA (V300I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GPathogenic
Select item 1244384	NM_013439.3(PILRA):c.232A>G (p.Arg78Gly)	LOC129998933, PILRA (R78G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 979635	GRCh37/hg19 7q22.1(chr7:99901525-100004543)x1	ZCWPW1, SPDYE3 +1 more	Copy number loss	not provided	GLikely benign
Select item 929826	GRCh37/hg19 7q22.1(chr7:99593346-102470275)x1	ACHE, ACTL6B +77 more	Copy number loss	See cases	GLikely pathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 253693	GRCh37/hg19 7q22.1(chr7:99724620-99972850)x3	MBLAC1, LAMTOR4 +7 more	Copy number gain	See cases	GUncertain significance
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 149050	GRCh38/hg38 7q22.1(chr7:99932610-102473188)x3	ACHE, ACTL6B +283 more	Copy number gain	See cases	GUncertain significance
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	LOC129998966, LOC129998967 +309 more	Copy number loss	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 41