ClinVar for Gene (Select 22797) - ClinVar

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Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2623119	NM_012252.4(TFEC):c.521T>C (p.Met174Thr)	TFEC (M145T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597696	NM_012252.4(TFEC):c.389A>T (p.Asp130Val)	TFEC (D130V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456005	NM_012252.4(TFEC):c.127C>T (p.Pro43Ser)	TFEC (P43S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384660	NM_012252.4(TFEC):c.190G>A (p.Val64Ile)	TFEC (V64I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363097	NM_012252.4(TFEC):c.919A>G (p.Met307Val)	TFEC (M278V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343680	NM_012252.4(TFEC):c.523C>T (p.Arg175Cys)	TFEC (R146C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312701	NM_012252.4(TFEC):c.573G>T (p.Trp191Cys)	TFEC (W124C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281074	NM_012252.4(TFEC):c.621G>T (p.Lys207Asn)	TFEC (K140N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264201	NM_012252.4(TFEC):c.319A>G (p.Ile107Val)	TFEC (I107V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2209551	NM_012252.4(TFEC):c.766C>A (p.Gln256Lys)	TFEC (Q189K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 785231	NM_012252.4(TFEC):c.315A>C (p.Ser105=)	TFEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 781112	NM_012252.4(TFEC):c.57G>A (p.Val19=)	TFEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768196	NM_012252.4(TFEC):c.298G>A (p.Gly100Ser)	TFEC (G100S +2 more)	Single nucleotide variant (missense variant)	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 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	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441861	GRCh37/hg19 7q31.1-31.2(chr7:111642645-115770275)x1	BMT2, DOCK4 +9 more	Copy number loss	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	LOC129999548, LOC129999549 +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	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 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: 42