ClinVar for Gene (Select 7982) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322969	NM_001369598.1(ST7):c.450G>A (p.Arg150=)	ST7, ST7-AS2	Single nucleotide variant (synonymous 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 3170710	NM_001369598.1(ST7):c.932G>A (p.Arg311Lys)	ST7, ST7-AS2 (R245K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170709	NM_001369598.1(ST7):c.563C>G (p.Ala188Gly)	ST7, ST7-AS2 (A142G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170708	NM_001369598.1(ST7):c.1499C>T (p.Ser500Phe)	ST7 (S450F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170707	NM_001369598.1(ST7):c.1484G>A (p.Arg495Gln)	ST7 (R426Q +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170706	NM_001369598.1(ST7):c.145A>C (p.Ser49Arg)	ST7, ST7-AS1 (S49R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3170705	NM_001369598.1(ST7):c.128A>C (p.Lys43Thr)	ST7, ST7-AS1 (K43T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3057920	NM_001369598.1(ST7):c.1406-8G>A	ST7	Single nucleotide variant (intron variant)	ST7-related disorder	GLikely benign
Select item 3055413	NM_001369598.1(ST7):c.1078+7T>C	ST7	Single nucleotide variant (intron variant)	ST7-related disorder	GBenign
Select item 3040627	NM_001369598.1(ST7):c.1639-3C>A	ST7	Single nucleotide variant (intron variant)	ST7-related disorder	GLikely benign
Select item 3039795	NM_001369598.1(ST7):c.1395G>A (p.Thr465=)	ST7, ST7-OT3	Single nucleotide variant (synonymous variant +2 more)	ST7-related disorder	GLikely benign
Select item 3024369	GRCh38/hg38 7q31.1-31.2(chr7:113604778-117643891)	ASZ1, CAPZA2 +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 2684504	GRCh37/hg19 7q31.2(chr7:116747524-116975763)x3	ST7, ST7-OT3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2617051	NM_001369598.1(ST7):c.935C>T (p.Thr312Ile)	ST7, ST7-AS2 (T243I +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518845	NM_001369598.1(ST7):c.1638+859C>T	ST7 (R567C +1 more)	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 2493749	NM_001369598.1(ST7):c.46A>C (p.Ile16Leu)	ST7, ST7-AS1 (I16L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385461	NM_001369598.1(ST7):c.1638+887C>T	ST7 (P553L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352248	NM_001369598.1(ST7):c.11C>T (p.Ala4Val)	ST7, ST7-AS1 (A4V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2333048	NM_001369598.1(ST7):c.97T>C (p.Phe33Leu)	ST7, ST7-AS1 (F33L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279724	NM_001369598.1(ST7):c.818G>A (p.Arg273His)	ST7, ST7-AS2 (R230H +7 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 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 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 774316	NM_001369598.1(ST7):c.1638+860G>T	ST7 (R567L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 773892	NM_001369598.1(ST7):c.1638+8T>C	ST7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 754198	NM_001369598.1(ST7):c.834A>G (p.Gln278=)	ST7, ST7-AS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743510	NM_001369598.1(ST7):c.1638+917G>T	ST7	Single nucleotide variant (stop lost +1 more)	not provided	GLikely benign
Select item 724738	NM_001369598.1(ST7):c.540G>A (p.Ser180=)	ST7, ST7-AS2	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	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 183291	NM_001369598.1(ST7):c.489T>G (p.Tyr163Ter)	ST7, ST7-AS2 (Y163* +3 more)	Single nucleotide variant (nonsense +1 more)	Global developmental delay +2 more	GLikely pathogenic
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

ClinVar

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Germline classification

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Links from Gene

Items: 59