29969[geneid] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 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 59714	GRCh38/hg38 7q31.1-31.2(chr7:113569777-115093349)x3	FOXP2, LINC01393 +21 more	Copy number gain	See cases	GPathogenic
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 60286	GRCh38/hg38 7q31.1-31.33(chr7:113799835-124899218)x1	AASS, ANKRD7 +248 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 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 2230272	NM_001166345.3(MDFIC):c.-317T>A	MDFIC (V4D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551271	NM_001166345.3(MDFIC):c.-309G>A	MDFIC (A7T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2551272	NM_001166345.3(MDFIC):c.-308C>A	MDFIC (A7D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221379	NM_001166345.3(MDFIC):c.-303G>A	MDFIC (A9T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283769	NM_001166345.3(MDFIC):c.-269T>A	MDFIC (L20Q)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393335	NM_001166345.3(MDFIC):c.-225G>A	LOC129999150, MDFIC (V35I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550035	NM_001166345.3(MDFIC):c.-224T>A	LOC129999150, MDFIC (V35D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293791	NM_001166345.3(MDFIC):c.-198G>T	LOC129999150, MDFIC (G44C)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2621934	NM_001166345.3(MDFIC):c.-174T>C	LOC129999151, MDFIC (F52L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3346872	NM_001166345.3(MDFIC):c.-158GGA[5]	LOC129999151, MDFIC (R62del)	Microsatellite (5 prime UTR variant +1 more)	MDFIC-related disorder	GLikely benign
Select item 3124556	NM_001166345.3(MDFIC):c.-116G>T	MDFIC, LOC129999151 (G71V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3293793	NM_001166345.3(MDFIC):c.-98G>T	MDFIC (S77I)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278170	NM_001166345.3(MDFIC):c.1A>C (p.Met1Leu)	LOC129999152, MDFIC (M110L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2251641	NM_001166345.3(MDFIC):c.2T>A (p.Met1Lys)	LOC129999152, MDFIC (M1K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320633	NM_001166345.3(MDFIC):c.37G>T (p.Val13Leu)	LOC129999152, MDFIC (V13L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293794	NM_001166345.3(MDFIC):c.125A>C (p.Asp42Ala)	MDFIC (D151A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230397	NM_001166345.3(MDFIC):c.125A>G (p.Asp42Gly)	MDFIC (D151G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218633	NM_001166345.3(MDFIC):c.129A>G (p.Ile43Met)	MDFIC (I43M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124557	NM_001166345.3(MDFIC):c.167T>A (p.Met56Lys)	MDFIC (M165K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 724631	NM_001166345.3(MDFIC):c.179C>T (p.Ser60Phe)	MDFIC (S60F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1702941	NM_001166345.3(MDFIC):c.187G>T (p.Gly63Ter)	MDFIC (G63X +1 more)	Single nucleotide variant (nonsense)	Lymphatic malformation 12	GPathogenic
Select item 2309913	NM_001166345.3(MDFIC):c.190A>G (p.Asn64Asp)	MDFIC (N173D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770941	NM_001166345.3(MDFIC):c.198G>A (p.Ser66=)	MDFIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124558	NM_001166345.3(MDFIC):c.211A>T (p.Ile71Phe)	MDFIC (I71F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3293792	NM_001166345.3(MDFIC):c.229C>T (p.Arg77Cys)	MDFIC (R77C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342253	NM_001166345.3(MDFIC):c.255_256delinsAT (p.Gln86Ter)	MDFIC (Q195* +1 more)	Indel (nonsense)	Lymphatic malformation 12	GLikely pathogenic
Select item 3124559	NM_001166345.3(MDFIC):c.281G>A (p.Gly94Asp)	MDFIC (G203D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3124560	NM_001166345.3(MDFIC):c.304G>T (p.Gly102Cys)	MDFIC (G211C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473975	NM_001166345.3(MDFIC):c.317G>T (p.Gly106Val)	MDFIC (G106V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287001	NM_001166345.3(MDFIC):c.317G>A (p.Gly106Glu)	MDFIC (G106E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 713600	NM_001166345.3(MDFIC):c.346G>A (p.Gly116Arg)	MDFIC (G116R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3124561	NM_001166345.3(MDFIC):c.352G>A (p.Ala118Thr)	MDFIC (A118T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3124562	NM_001166345.3(MDFIC):c.362G>A (p.Arg121His)	MDFIC (R121H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702940	NM_001166345.3(MDFIC):c.371del (p.Leu123_Ser124insTer)	MDFIC	Deletion (nonsense)	Lymphatic malformation 12	GPathogenic
Select item 2456167	NM_001166345.3(MDFIC):c.376C>T (p.Pro126Ser)	MDFIC (P126S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388464	NM_001166345.3(MDFIC):c.383C>T (p.Ser128Phe)	MDFIC (S128F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702938	NM_001166345.3(MDFIC):c.391dup (p.Met131fs)	MDFIC (M131fs +1 more)	Duplication (frameshift variant)	Lymphatic malformation 12	GPathogenic
Select item 3124563	NM_001166345.3(MDFIC):c.466T>C (p.Ser156Pro)	MDFIC (S156P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2657957	NM_001166345.3(MDFIC):c.468C>G (p.Ser156=)	MDFIC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3124564	NM_001166345.3(MDFIC):c.553A>G (p.Ile185Val)	MDFIC (I294V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1676080	NM_001166345.3(MDFIC):c.585del (p.Ile194_Cys195insTer)	MDFIC	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 2406983	NM_001166345.3(MDFIC):c.601T>C (p.Cys201Arg)	MDFIC (C310R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2483685	NM_001166345.3(MDFIC):c.619G>A (p.Glu207Lys)	MDFIC (E316K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702939	NM_001166345.3(MDFIC):c.732T>G (p.Phe244Leu)	MDFIC (F244L +1 more)	Single nucleotide variant (missense variant)	Lymphatic malformation 12	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 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 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 815025	GRCh37/hg19 7q31.1-31.2(chr7:113889712-115323564)x3	FOXP2, MDFIC	Copy number gain	not provided	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 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 685925	GRCh37/hg19 7q31.1-31.2(chr7:113898185-115322759)x3	FOXP2, MDFIC	Copy number gain	not provided	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 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 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

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Items: 72