ClinVar for Gene (Select 26136) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3325478	NM_015641.4(TES):c.1214C>T (p.Pro405Leu)	TES (P405L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325477	NM_015641.4(TES):c.664A>G (p.Met222Val)	TES (M213V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325476	NM_015641.4(TES):c.574G>A (p.Val192Ile)	TES (V192I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176166	NM_015641.4(TES):c.748A>G (p.Ile250Val)	TES (I241V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176165	NM_015641.4(TES):c.346C>T (p.Pro116Ser)	TES (P107S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176164	NM_015641.4(TES):c.165G>C (p.Leu55Phe)	TES (L46F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176163	NM_015641.4(TES):c.1130A>G (p.Tyr377Cys)	TES (Y368C +1 more)	Single nucleotide variant (missense variant)	not specified	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 2618041	NM_015641.4(TES):c.1042G>A (p.Val348Met)	TES (V348M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524001	NM_015641.4(TES):c.136T>C (p.Cys46Arg)	TES (C37R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412533	NM_015641.4(TES):c.1060G>A (p.Val354Met)	TES (V345M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390759	NM_015641.4(TES):c.1120C>T (p.Arg374Trp)	TES (R365W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389559	NM_015641.4(TES):c.265C>T (p.Arg89Cys)	TES (R80C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366652	NM_015641.4(TES):c.767G>A (p.Gly256Asp)	TES (G247D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329837	NM_015641.4(TES):c.858G>C (p.Lys286Asn)	TES (K286N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268830	NM_015641.4(TES):c.625C>T (p.Pro209Ser)	TES (P200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254472	NM_015641.4(TES):c.319A>G (p.Asn107Asp)	TES (N98D +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 981805	NM_015641.4(TES):c.1166T>C (p.Phe389Ser)	TES (F380S +1 more)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	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 688772	GRCh37/hg19 7q31.2(chr7:115892116-116371242)x1	CAV1, CAV2 +2 more	Copy number loss	not provided	GUncertain significance
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 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 560121	Single allele	FOXP2, MDFIC +2 more	Deletion	not provided	GPathogenic
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 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
Select item 59715	GRCh38/hg38 7q31.2(chr7:115042242-116687714)x3	CAV1, CAV2 +48 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 46