Related gene-specific medical variations for Gene (Select 6314) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3333266	NM_001377405.1(ATXN7):c.166C>T (p.Arg56Trp)	ATXN7, LOC129936979 (R56W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333259	NM_001377405.1(ATXN7):c.288T>A (p.Asn96Lys)	ATXN7, LOC129936979 (N96K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3325944	NM_025075.4(THOC7):c.18C>A (p.Asp6Glu)	ATXN7, THOC7 (D6E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3132281	NM_001377405.1(ATXN7):c.56C>A (p.Ala19Glu)	ATXN7, LOC129936979 (A19E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132277	NM_001377405.1(ATXN7):c.248C>T (p.Pro83Leu)	ATXN7, LOC129936979 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132275	NM_001377405.1(ATXN7):c.223A>T (p.Met75Leu)	ATXN7, LOC129936979 (M75L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132273	NM_001377405.1(ATXN7):c.217G>A (p.Ala73Thr)	ATXN7, LOC129936979 (A73T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132269	NM_001377405.1(ATXN7):c.191G>C (p.Gly64Ala)	ATXN7, LOC129936979 (G64A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3132266	NM_001377405.1(ATXN7):c.181G>C (p.Glu61Gln)	ATXN7, LOC129936979 (E61Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062681	GRCh37/hg19 3p14.1(chr3:63951195-63977015)x1	ATXN7	Copy number loss	not specified	GUncertain significance
Select item 3057278	NM_001377405.1(ATXN7):c.104A>C (p.Gln35Pro)	ATXN7, LOC108660406 +1 more (Q35P)	Single nucleotide variant (missense variant)	ATXN7-related disorder	GLikely benign
Select item 3046008	NM_001377405.1(ATXN7):c.54G>C (p.Ala18=)	ATXN7, LOC129936979	Single nucleotide variant (synonymous variant)	ATXN7-related disorder	GLikely benign
Select item 3033271	NM_001377405.1(ATXN7):c.89AGC[13] (p.Gln39_Pro40insGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	ATXN7-related disorder	GLikely benign
Select item 2691398	NM_001377405.1(ATXN7):c.143A>G (p.Gln48Arg)	ATXN7, LOC129936979 (Q48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653941	NM_001377405.1(ATXN7):c.117GCC[4] (p.Pro43_Gln44insPro)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	not provided	GBenign
Select item 2653940	NM_001377405.1(ATXN7):c.118_119insAGCCGC (p.Gln39_Pro40insGlnPro)	ATXN7, LOC108660406 +1 more	Insertion (inframe_indel)	not provided	GLikely benign
Select item 2653939	NM_001377405.1(ATXN7):c.89AGC[15] (p.Gln39_Pro40insGlnGlnGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	not provided	GBenign
Select item 2653938	NM_001377405.1(ATXN7):c.89AGC[14] (p.Gln39_Pro40insGlnGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_indel)	not provided	GBenign
Select item 2653937	NM_001377405.1(ATXN7):c.37C>T (p.Pro13Ser)	ATXN7, LOC129936979 (P13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2602666	NM_001377405.1(ATXN7):c.124C>T (p.Pro42Ser)	ATXN7, LOC129936979 (P42S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494340	NM_001377405.1(ATXN7):c.127C>G (p.Pro43Ala)	ATXN7, LOC129936979 (P43A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488934	NM_001377405.1(ATXN7):c.179C>G (p.Pro60Arg)	ATXN7, LOC129936979 (P60R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391601	NM_001377405.1(ATXN7):c.101A>C (p.Gln34Pro)	ATXN7, LOC108660406 +1 more (Q34P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334908	NM_001377405.1(ATXN7):c.111G>C (p.Gln37His)	ATXN7, LOC108660406 +1 more (Q37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330822	NM_001377405.1(ATXN7):c.230C>G (p.Thr77Arg)	ATXN7, LOC129936979 (T77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273048	NM_001377405.1(ATXN7):c.79G>A (p.Ala27Thr)	ATXN7, LOC129936979 (A27T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328067	NM_001377405.1(ATXN7):c.89AGC[9] (p.Gln39del)	ATXN7, LOC108660406 +1 more (Q39del)	Microsatellite (inframe_deletion)	not specified	GBenign
Select item 1284420	NM_001377405.1(ATXN7):c.273G>C (p.Leu91=)	ATXN7, LOC129936979	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 931863	NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del)	ATXN7 (L740del +1 more)	Deletion (inframe_deletion)	Spinocerebellar ataxia 7	GBenign
Select item 809503	NM_001377405.1(ATXN7):c.*31C>T	ATXN7 (A926V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 809502	NM_001377405.1(ATXN7):c.1638C>A (p.Ala546=)	ATXN7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 809501	NM_001377405.1(ATXN7):c.116A>C (p.Gln39Pro)	ATXN7, LOC108660406 +1 more (Q39P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638436	NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro)	ATXN7, LOC108660406 +1 more	Insertion (inframe_insertion)	Spinocerebellar ataxia 7	GUncertain significance
Select item 626311	NM_001377405.1(ATXN7):c.89AGC[233] (p.Gln39_Pro40insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_insertion)	Spinocerebellar ataxia 7	GPathogenic
Select item 562100	NG_008227.1:g.53130CAG[38_130]	ATXN7	Microsatellite	Spinocerebellar ataxia 7	GPathogenic
Select item 402403	NM_001377405.1(ATXN7):c.89AGC[12] (p.Gln38_Gln39dup)	ATXN7, LOC108660406 +1 more	Microsatellite (inframe_insertion)	not specified	GLikely benign
Select item 208954	NM_001377405.1(ATXN7):c.211T>G (p.Ser71Ala)	ATXN7, LOC129936979 (S71A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2953	NM_000333.4:c.89ACG[7_17]	ATXN7, LOC108660406 +1 more	Microsatellite	Spinocerebellar ataxia 7	GBenign

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Items: 38