64446[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59732	GRCh38/hg38 17q25.1(chr17:73843095-74670538)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign
Select item 160836	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 152569	GRCh38/hg38 17q25.1(chr17:73851698-74651858)x3	BTBD17, CD300A +42 more	Copy number gain	See cases	GBenign/Likely benign
Select item 59733	GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3	BTBD17, CD300A +44 more	Copy number gain	See cases	GBenign
Select item 32717	GRCh38/hg38 17q25.1(chr17:73851698-74610813)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 145427	GRCh38/hg38 17q25.1(chr17:73851718-74610906)x3	BTBD17, CD300A +41 more	Copy number gain	See cases	GBenign
Select item 150454	GRCh38/hg38 17q25.1(chr17:73967269-74610906)x3	BTBD17, CD300A +39 more	Copy number gain	See cases	GLikely benign
Select item 325000	NM_023036.6(DNAI2):c.-72_-63del	DNAI2	Deletion (5 prime UTR variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 325001	NM_023036.6(DNAI2):c.-54A>G	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 891390	NM_023036.6(DNAI2):c.-22G>A	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325003	NM_023036.6(DNAI2):c.-21C>T	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 325002	NM_023036.6(DNAI2):c.-21C>A	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 325004	NM_023036.6(DNAI2):c.-17C>A	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 1249367	NM_023036.6(DNAI2):c.-11-257G>A	DNAI2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706936	NM_023036.6(DNAI2):c.-11-201G>C	DNAI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1184651	NM_023036.6(DNAI2):c.-11-67A>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 9 +1 more	GBenign
Select item 525584	NC_000017.10:g.(?_72277937)_(72310375_?)dup	DNAI2	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 417453	NC_000017.10:g.(?_72277946)_(72310410_?)dup	DNAI2	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 3045458	NM_023036.6(DNAI2):c.-7C>T	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	DNAI2-related disorder	GLikely benign
Select item 325005	NM_023036.6(DNAI2):c.-4C>T	DNAI2	Single nucleotide variant (5 prime UTR variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 1160361	NM_023036.6(DNAI2):c.9T>C (p.Ile3=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 581026	NM_023036.6(DNAI2):c.11T>C (p.Val4Ala)	DNAI2 (V4A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1769375	NM_023036.6(DNAI2):c.12G>T (p.Val4=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2756528	NM_023036.6(DNAI2):c.15C>A (p.Tyr5Ter)	DNAI2 (Y5*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1541028	NM_023036.6(DNAI2):c.15C>T (p.Tyr5=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1612621	NM_023036.6(DNAI2):c.18G>A (p.Val6=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1074621	NM_023036.6(DNAI2):c.21C>G (p.Tyr7Ter)	DNAI2 (Y7*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 714139	NM_023036.6(DNAI2):c.21C>T (p.Tyr7=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1545353	NM_023036.6(DNAI2):c.27G>A (p.Lys9=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2832264	NM_023036.6(DNAI2):c.30G>A (p.Lys10=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1729954	NM_023036.6(DNAI2):c.32G>A (p.Arg11His)	DNAI2 (R11H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2046389	NM_023036.6(DNAI2):c.33C>A (p.Arg11=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1555555	NM_023036.6(DNAI2):c.33C>T (p.Arg11=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2068686	NM_023036.6(DNAI2):c.36C>T (p.Ser12=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 764259	NM_023036.6(DNAI2):c.39G>A (p.Glu13=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia +1 more	GConflicting classifications of pathogenicity
Select item 1142578	NM_023036.6(DNAI2):c.42C>T (p.Phe14=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 261649	NM_023036.6(DNAI2):c.43G>A (p.Gly15Arg)	DNAI2 (G15R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 261650	NM_023036.6(DNAI2):c.45G>A (p.Gly15=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2066332	NM_023036.6(DNAI2):c.50A>C (p.Gln17Pro)	DNAI2 (Q17P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1099002	NM_023036.6(DNAI2):c.51G>A (p.Gln17=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1537626	NM_023036.6(DNAI2):c.57T>C (p.Asn19=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2186415	NM_023036.6(DNAI2):c.63G>A (p.Ser21=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1615649	NM_023036.6(DNAI2):c.63G>C (p.Ser21=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2897915	NM_023036.6(DNAI2):c.66C>T (p.Asp22=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1568166	NM_023036.6(DNAI2):c.69C>T (p.Arg23=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 454941	NM_023036.6(DNAI2):c.70C>G (p.Gln24Glu)	DNAI2 (Q24E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1154988	NM_023036.6(DNAI2):c.75C>T (p.Ala25=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 705345	NM_023036.6(DNAI2):c.75C>G (p.Ala25=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2043299	NM_023036.6(DNAI2):c.78G>A (p.Glu26=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1446269	NM_023036.6(DNAI2):c.85A>G (p.Ile29Val)	DNAI2 (I29V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2501698	NM_023036.6(DNAI2):c.87dup (p.Asp30fs)	DNAI2 (D30fs)	Duplication (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 9	GLikely pathogenic
Select item 1096234	NM_023036.6(DNAI2):c.87C>T (p.Ile29=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2869156	NM_023036.6(DNAI2):c.90C>T (p.Asp30=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2153921	NM_023036.6(DNAI2):c.95T>A (p.Met32Lys)	DNAI2 (M32K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1987229	NM_023036.6(DNAI2):c.103C>G (p.Pro35Ala)	DNAI2 (P35A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 891391	NM_023036.6(DNAI2):c.110T>C (p.Leu37Pro)	DNAI2 (L37P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9	GUncertain significance
Select item 698560	NM_023036.6(DNAI2):c.111G>A (p.Leu37=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2726073	NM_023036.6(DNAI2):c.114C>T (p.Ala38=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1157950	NM_023036.6(DNAI2):c.114C>G (p.Ala38=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 408964	NM_023036.6(DNAI2):c.115G>A (p.Glu39Lys)	DNAI2 (E39K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +2 more	GUncertain significance
Select item 408960	NM_023036.6(DNAI2):c.119A>G (p.Gln40Arg)	DNAI2 (Q40R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1952267	NM_023036.6(DNAI2):c.120G>A (p.Gln40=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1377725	NM_023036.6(DNAI2):c.120G>T (p.Gln40His)	DNAI2 (Q40H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 698075	NM_023036.6(DNAI2):c.123C>T (p.Phe41=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 9 +1 more	GConflicting classifications of pathogenicity
Select item 241446	NM_023036.6(DNAI2):c.124G>A (p.Val42Met)	DNAI2 (V42M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1085027	NM_023036.6(DNAI2):c.126G>A (p.Val42=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1769619	NM_023036.6(DNAI2):c.130C>T (p.Arg44Trp)	DNAI2 (R44W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2172552	NM_023036.6(DNAI2):c.132del (p.Asn45fs)	DNAI2 (N45fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 325006	NM_023036.6(DNAI2):c.134A>G (p.Asn45Ser)	DNAI2 (N45S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 9 +2 more	GConflicting classifications of pathogenicity
Select item 1117885	NM_023036.6(DNAI2):c.144C>T (p.Asp48=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 638979	NM_023036.6(DNAI2):c.146C>T (p.Thr49Met)	DNAI2 (T49M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1155070	NM_023036.6(DNAI2):c.147G>C (p.Thr49=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1150680	NM_023036.6(DNAI2):c.147G>T (p.Thr49=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1126473	NM_023036.6(DNAI2):c.147G>A (p.Thr49=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2715796	NM_023036.6(DNAI2):c.154C>T (p.Gln52Ter)	DNAI2 (Q52*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1158353	NM_023036.6(DNAI2):c.159C>T (p.Cys53=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1095957	NM_023036.6(DNAI2):c.162G>A (p.Ser54=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2166887	NM_023036.6(DNAI2):c.165C>T (p.Ile55=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1986231	NM_023036.6(DNAI2):c.170T>C (p.Met57Thr)	DNAI2 (M57T)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1779165	NM_023036.6(DNAI2):c.173C>T (p.Ser58Leu)	DNAI2 (S58L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2751349	NM_023036.6(DNAI2):c.180C>T (p.His60=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3020499	NM_023036.6(DNAI2):c.183+12C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1972968	NM_023036.6(DNAI2):c.183+14C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2861522	NM_023036.6(DNAI2):c.183+15C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2845480	NM_023036.6(DNAI2):c.183+20G>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1201413	NM_023036.6(DNAI2):c.183+51C>G	DNAI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205196	NM_023036.6(DNAI2):c.184-157A>G	DNAI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206602	NM_023036.6(DNAI2):c.184-88A>G	DNAI2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2768895	NM_023036.6(DNAI2):c.184-20T>G	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2850354	NM_023036.6(DNAI2):c.184-15C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1437453	NM_023036.6(DNAI2):c.184-15C>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2845492	NM_023036.6(DNAI2):c.184-13G>A	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1111870	NM_023036.6(DNAI2):c.184-9T>C	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1095364	NM_023036.6(DNAI2):c.184-8C>T	DNAI2	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2036392	NC_000017.11:g.74285040del	DNAI2	Deletion (genic upstream transcript variant)	Primary ciliary dyskinesia	GPathogenic
Select item 651115	NM_023036.6(DNAI2):c.184-1G>A	DNAI2	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2764213	NM_023036.6(DNAI2):c.192A>T (p.Ser64=)	DNAI2	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign

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