ClinVar for Gene (Select 830) - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3369411	NM_006136.3(CAPZA2):c.775C>T (p.Arg259Cys)	CAPZA2 (R259C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3365680	NM_006136.3(CAPZA2):c.149C>G (p.Ala50Gly)	CAPZA2 (A50G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3263279	NM_006136.3(CAPZA2):c.422G>A (p.Cys141Tyr)	CAPZA2 (C141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263278	NM_006136.3(CAPZA2):c.389C>T (p.Ala130Val)	CAPZA2 (A130V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3252957	NM_006136.3(CAPZA2):c.19del (p.Gln7fs)	CAPZA2 (Q7fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3245669	NC_000007.13:g.(?_116165117)_(117307162_?)del	ASZ1, CAPZA2 +8 more	Deletion	Cystic fibrosis	GPathogenic
Select item 3137264	NM_006136.3(CAPZA2):c.548C>A (p.Pro183His)	CAPZA2 (P183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027222	NM_006136.3(CAPZA2):c.4G>A (p.Ala2Thr)	CAPZA2 (A2T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	LOC113219472, LOC113633876 +131 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 2662269	NM_006136.3(CAPZA2):c.585+1G>T	CAPZA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2619485	NM_006136.3(CAPZA2):c.68A>C (p.His23Pro)	CAPZA2 (H23P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2577676	NM_006136.3(CAPZA2):c.813G>A (p.Trp271Ter)	CAPZA2 (W271*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2541305	NM_006136.3(CAPZA2):c.619G>A (p.Val207Met)	CAPZA2 (V207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506832	NM_006136.3(CAPZA2):c.585+2T>G	CAPZA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2499643	GRCh38/hg38 7q31.2(chr7:116868268-117565389)	ASZ1, CAPZA2 +42 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2482445	NM_006136.3(CAPZA2):c.97T>G (p.Phe33Val)	CAPZA2 (F33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354326	NM_006136.3(CAPZA2):c.52G>A (p.Ala18Thr)	CAPZA2 (A18T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332984	NM_006136.3(CAPZA2):c.124A>C (p.Asn42His)	CAPZA2 (N42H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284096	NM_006136.3(CAPZA2):c.94G>A (p.Val32Ile)	CAPZA2 (V32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1806807	NM_006136.3(CAPZA2):c.115C>G (p.Leu39Val)	CAPZA2 (L39V)	Single nucleotide variant (missense variant)	not provided	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 1690948	NM_006136.3(CAPZA2):c.124A>G (p.Asn42Asp)	CAPZA2 (N42D)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1527383	GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489)	PRRT4, PTPRZ1 +92 more	Copy number gain	not specified	GPathogenic
Select item 1527380	GRCh37/hg19 7q22.1-31.31(chr7:100676872-119156160)	ALKBH4, ANKRD7 +95 more	Copy number loss	not specified	GPathogenic
Select item 1047873	GRCh37/hg19 7q31.2-31.33(chr7:116297277-126370694)	AASS, ANKRD7 +35 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 1040013	NC_000007.13:g.(?_116339139)_(117307162_?)del	ASZ1, CAPZA2 +7 more	Deletion	Renal cell carcinoma	GUncertain significance
Select item 832473	NC_000007.14:g.(?_116699075)_(117667118_?)del	ASZ1, CAPZA2 +7 more	Deletion	Papillary renal cell carcinoma type 1	GUncertain significance
Select item 830217	NM_006136.3(CAPZA2):c.766A>G (p.Lys256Glu)	CAPZA2 (K256E)	Single nucleotide variant	Intellectual disability	GPathogenic
Select item 830216	NM_006136.3(CAPZA2):c.776G>T (p.Arg259Leu)	CAPZA2 (R259L)	Single nucleotide variant (missense variant)	Intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
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 686057	GRCh37/hg19 7q31.1-31.31(chr7:107410314-117825549)x1	ASZ1, BMT2 +34 more	Copy number loss	not provided	GPathogenic
Select item 583430	NC_000007.13:g.(?_116339129)_(117144427_?)dup	LOC116186911, LOC123956215 +45 more	Duplication	Papillary renal cell carcinoma type 1	GUncertain significance
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 563410	GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1	CAV2, TFEC +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 563357	GRCh37/hg19 7q31.2(chr7:116371239-116811139)x1	MET, ST7 +3 more	Copy number loss	not provided	GUncertain significance
Select item 443601	GRCh37/hg19 7q31.1-31.31(chr7:113764678-117694762)x3	ASZ1, CAPZA2 +14 more	Copy number gain	See cases	GUncertain significance
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 394226	GRCh37/hg19 7q31.2(chr7:116558282-116599811)x3	CAPZA2, ST7 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 more	Copy number loss	See cases	GPathogenic
Select item 155346	GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)x1	CAPZA2, CAV1 +98 more	Copy number loss	See cases	GPathogenic
Select item 154392	GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)x1	ASZ1, CAPZA2 +131 more	Copy number loss	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	AASS, ABCB8 +1547 more	Copy number gain	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 145985	GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)x1	AASS, ANKRD7 +253 more	Copy number loss	See cases	GPathogenic
Select item 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 54