ClinVar for Gene (Select 136991) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319623	NM_130768.3(ASZ1):c.1289G>A (p.Arg430Gln)	ASZ1 (R222Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319612	NM_130768.3(ASZ1):c.571C>T (p.Arg191Cys)	ASZ1 (R191C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319601	NM_130768.3(ASZ1):c.365A>G (p.His122Arg)	ASZ1 (H122R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3245669	NC_000007.13:g.(?_116165117)_(117307162_?)del	ASZ1, CAPZA2 +8 more	Deletion	Cystic fibrosis	GPathogenic
Select item 3130635	NM_130768.3(ASZ1):c.869A>G (p.His290Arg)	ASZ1 (H290R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130634	NM_130768.3(ASZ1):c.454C>G (p.Pro152Ala)	ASZ1 (P152A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130633	NM_130768.3(ASZ1):c.286C>T (p.Arg96Trp)	ASZ1 (R96W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130632	NM_130768.3(ASZ1):c.160A>G (p.Met54Val)	ASZ1 (M54V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130631	NM_130768.3(ASZ1):c.1276T>C (p.Leu426=)	ASZ1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2618166	NM_130768.3(ASZ1):c.55G>C (p.Glu19Gln)	ASZ1 (E19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611406	NM_130768.3(ASZ1):c.1056T>C (p.Ser352=)	ASZ1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560568	NM_130768.3(ASZ1):c.16C>G (p.Leu6Val)	ASZ1 (L6V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557402	NM_130768.3(ASZ1):c.754G>A (p.Asp252Asn)	ASZ1 (D252N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535609	NM_130768.3(ASZ1):c.410C>T (p.Ser137Leu)	ASZ1 (S137L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515331	NM_130768.3(ASZ1):c.457A>G (p.Ile153Val)	ASZ1 (I153V)	Single nucleotide variant (missense variant +1 more)	not specified	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 2479290	NM_130768.3(ASZ1):c.266T>C (p.Val89Ala)	ASZ1 (V89A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412373	NM_130768.3(ASZ1):c.1148T>G (p.Val383Gly)	ASZ1 (V175G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411577	NM_130768.3(ASZ1):c.1288C>T (p.Arg430Trp)	ASZ1 (R222W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398345	NM_130768.3(ASZ1):c.8C>G (p.Ala3Gly)	ASZ1 (A3G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391849	NM_130768.3(ASZ1):c.460A>G (p.Met154Val)	ASZ1 (M154V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2380629	NM_130768.3(ASZ1):c.272A>G (p.Asn91Ser)	ASZ1 (N91S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363120	NM_130768.3(ASZ1):c.662T>C (p.Ile221Thr)	ASZ1 (I13T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340122	NM_130768.3(ASZ1):c.64G>C (p.Asp22His)	ASZ1 (D22H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339722	NM_130768.3(ASZ1):c.1048G>A (p.Glu350Lys)	ASZ1 (E142K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301272	NM_130768.3(ASZ1):c.189G>C (p.Gln63His)	ASZ1 (Q63H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286967	NM_130768.3(ASZ1):c.922A>G (p.Met308Val)	ASZ1 (M100V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268996	NM_130768.3(ASZ1):c.727G>C (p.Gly243Arg)	ASZ1 (G243R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261584	NM_130768.3(ASZ1):c.301A>G (p.Arg101Gly)	ASZ1 (R101G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242472	NM_130768.3(ASZ1):c.14C>G (p.Ala5Gly)	ASZ1 (A5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212329	NM_130768.3(ASZ1):c.64G>T (p.Asp22Tyr)	ASZ1 (D22Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211561	NM_130768.3(ASZ1):c.1091A>G (p.Asn364Ser)	ASZ1 (N156S +1 more)	Single nucleotide variant (missense variant)	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 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)	POT1, PTPRZ1 +35 more	Copy number loss	Short stature +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	CFTR, ASZ1 +7 more	Deletion	Papillary renal cell carcinoma type 1	GUncertain significance
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 787673	NM_130768.3(ASZ1):c.117G>A (p.Arg39=)	ASZ1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	LOC126860157, LOC126860158 +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 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 253455	GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)x1	AASS, RNU2-1 +57 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 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	LOC129999373, LOC129999374 +492 more	Copy number loss	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: 62