ClinVar for Gene (Select 54840) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364364	NM_001195248.2(APTX):c.707T>C (p.Val236Ala)	APTX (V148A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339643	NM_001195248.2(APTX):c.-5G>A	APTX	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3308921	NM_001195248.2(APTX):c.699G>T (p.Lys233Asn)	APTX (K161N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3308904	NM_001195248.2(APTX):c.705T>G (p.Ile235Met)	APTX (I181M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3128101	NM_001195248.2(APTX):c.952C>T (p.Arg318Cys)	APTX (R246C +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3128100	NM_001195248.2(APTX):c.949C>T (p.Leu317Phe)	APTX (L245F +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3128098	NM_001195248.2(APTX):c.370A>T (p.Ile124Leu)	APTX (I124L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3065435	NM_001195248.2(APTX):c.484-1G>C	APTX	Single nucleotide variant (splice acceptor variant)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely pathogenic
Select item 3065181	NM_001195248.2(APTX):c.874G>A (p.Ala292Thr)	APTX (A118T +6 more)	Single nucleotide variant (missense variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3025174	NM_001195248.2(APTX):c.720G>A (p.Gly240=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2991760	NM_001195248.2(APTX):c.543+12A>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980737	NM_001195248.2(APTX):c.484-19T>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963804	NM_001195248.2(APTX):c.134-11A>T	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910226	NM_001195248.2(APTX):c.336_337del (p.His112fs)	APTX (H24fs +2 more)	Microsatellite (frameshift variant +2 more)	not provided	GPathogenic
Select item 2899388	NM_001195248.2(APTX):c.492G>C (p.Leu164=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2882883	NM_001195248.2(APTX):c.484-13_484-10del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 2869972	NM_001195248.2(APTX):c.483+7G>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868614	NM_001195248.2(APTX):c.484-25_484-11del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 2840564	NM_001195248.2(APTX):c.484-11_484-10insTGTTTTG	APTX	Insertion (intron variant)	not provided	GLikely benign
Select item 2821016	NM_001195248.2(APTX):c.229dup (p.Gln77fs)	APTX (Q77fs)	Duplication (frameshift variant +3 more)	not provided	GPathogenic
Select item 2804720	NM_001195248.2(APTX):c.796C>T (p.Gln266Ter)	APTX (Q212* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2789065	NM_001195248.2(APTX):c.132A>G (p.Gln44=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2785134	NM_001195248.2(APTX):c.134-12A>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767545	NM_001195248.2(APTX):c.484-3dup	APTX	Duplication (intron variant)	not provided	GBenign
Select item 2766017	NM_001195248.2(APTX):c.471A>G (p.Ala157=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2764749	NM_001195248.2(APTX):c.181-9_181-8del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 2722349	NM_001195248.2(APTX):c.484-26_484-3del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 2720059	NM_001195248.2(APTX):c.484-4_484-3del	APTX	Deletion (intron variant)	not provided	GBenign
Select item 2711964	NM_001195248.2(APTX):c.484-25_484-8del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 2693722	NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTG	APTX	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2663301	NM_001195248.2(APTX):c.935_941delinsAAG (p.Leu312fs)	APTX (L224fs +3 more)	Indel (frameshift variant +2 more)	not provided	GLikely pathogenic
Select item 2610333	NM_001195248.2(APTX):c.724A>G (p.Ser242Gly)	APTX (S188G +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2571331	NM_001195248.2(APTX):c.739C>T (p.Arg247Ter)	APTX (R159* +4 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy +1 more	GPathogenic
Select item 2501668	NM_001195248.2(APTX):c.729del (p.Lys243fs)	APTX (K155fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GLikely pathogenic
Select item 2427533	NC_000009.11:g.(?_32985949)_(32986048_?)del	APTX	Deletion	not provided	GUncertain significance
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 2419334	NM_001195248.2(APTX):c.690G>A (p.Val230=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2393741	NM_001195248.2(APTX):c.484-2A>T	APTX	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 2334852	NM_001195248.2(APTX):c.362G>A (p.Ser121Asn)	APTX (S121N +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321145	NM_001195248.2(APTX):c.562G>T (p.Val188Leu)	APTX (V134L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2309594	NM_001195248.2(APTX):c.680T>C (p.Met227Thr)	APTX (M227T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2258892	NM_001195248.2(APTX):c.679A>G (p.Met227Val)	APTX (M173V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242001	NM_001195248.2(APTX):c.761C>T (p.Pro254Leu)	APTX (P182L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231951	NM_001195248.2(APTX):c.185G>A (p.Gly62Glu)	APTX (G62E)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2230719	NM_001195248.2(APTX):c.944T>C (p.Leu315Pro)	APTX (L141P +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230216	NM_001195248.2(APTX):c.635G>T (p.Ser212Ile)	APTX (S158I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2214267	NM_001195248.2(APTX):c.49A>T (p.Ile17Phe)	APTX (I17F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2198234	NM_001195248.2(APTX):c.777A>C (p.Val259=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2161388	NM_001195248.2(APTX):c.370A>G (p.Ile124Val)	APTX (I124V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2136752	NM_001195248.2(APTX):c.725G>A (p.Ser242Asn)	APTX (S242N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2112401	NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTTG	APTX	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2097287	NM_001195248.2(APTX):c.1008C>T (p.Leu336=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2095561	NM_001195248.2(APTX):c.159G>A (p.Lys53=)	APTX	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2073148	NM_001195248.2(APTX):c.87T>A (p.Arg29=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2065310	NM_001195248.2(APTX):c.484-25_484-7del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 2033661	NM_001195248.2(APTX):c.134-7C>T	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2019865	NM_001195248.2(APTX):c.588_595del (p.Lys197fs)	APTX (K197fs +3 more)	Deletion (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 1997746	NM_001195248.2(APTX):c.902G>T (p.Gly301Val)	APTX (G127V +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1989192	NM_001195248.2(APTX):c.52A>C (p.Arg18=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1986568	NM_001195248.2(APTX):c.900T>A (p.Ala300=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1984835	NM_001195248.2(APTX):c.618G>A (p.Pro206=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1970418	NM_001195248.2(APTX):c.89G>A (p.Gly30Asp)	APTX (G30D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1969258	NM_001195248.2(APTX):c.543+20A>G	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960082	NM_001195248.2(APTX):c.133+18dup	APTX	Duplication (intron variant)	not provided	GLikely benign
Select item 1949179	NM_001195248.2(APTX):c.960T>C (p.His320=)	APTX	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1935087	NM_001195248.2(APTX):c.85C>T (p.Arg29Cys)	APTX (R29C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1934167	NM_001195248.2(APTX):c.484-12T>A	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1930421	NM_001195248.2(APTX):c.6G>T (p.Met2Ile)	APTX (M2I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1925900	NM_001195248.2(APTX):c.90C>T (p.Gly30=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1925413	NM_001195248.2(APTX):c.37C>T (p.Arg13Trp)	APTX (R13W)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1918357	NM_001195248.2(APTX):c.874+17G>C	APTX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911036	NM_001195248.2(APTX):c.484-18_484-17insG	APTX	Insertion (intron variant)	not provided	GLikely benign
Select item 1903185	NM_001195248.2(APTX):c.753C>T (p.His251=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1807152	NM_001195248.2(APTX):c.719G>T (p.Gly240Val)	APTX (G152V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1807151	NM_001195248.2(APTX):c.873A>G (p.Gln291=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1711686	NM_001195248.2(APTX):c.505C>G (p.Gln169Glu)	APTX (Q115E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1706448	NM_001195248.2(APTX):c.638del (p.Leu213fs)	APTX (L125fs +3 more)	Deletion (frameshift variant +1 more)	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	GPathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1701566	NM_001195248.2(APTX):c.946C>T (p.Pro316Ser)	APTX (P228S +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1676122	NM_001195248.2(APTX):c.899C>T (p.Ala300Val)	APTX (A212V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1653665	NM_001195248.2(APTX):c.948C>T (p.Pro316=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1650542	NM_001195248.2(APTX):c.771-14_771-12del	APTX	Deletion (intron variant)	not provided	GLikely benign
Select item 1640162	NM_001195248.2(APTX):c.484-16_484-15insG	APTX	Insertion (intron variant)	not provided	GLikely benign
Select item 1638520	NM_001195248.2(APTX):c.484-19_484-18insG	APTX	Insertion (intron variant)	not provided	GLikely benign
Select item 1637837	NM_001195248.2(APTX):c.108T>C (p.Thr36=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1629583	NM_001195248.2(APTX):c.484-11_484-10insTG	APTX	Insertion (intron variant)	not provided	GLikely benign
Select item 1629177	NM_001195248.2(APTX):c.484-20_484-19insG	APTX	Insertion (intron variant)	not provided	GBenign
Select item 1628696	NM_001195248.2(APTX):c.333A>C (p.Thr111=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1608145	NM_001195248.2(APTX):c.210A>T (p.Ser70=)	APTX	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1587286	NM_001195248.2(APTX):c.633C>A (p.Ser211=)	APTX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1585009	NM_001195248.2(APTX):c.72A>G (p.Ala24=)	APTX	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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