56171[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57395	GRCh38/hg38 2q32.3-33.1(chr2:194515159-198545937)x1	ANKRD44, ANKRD44-AS1 +118 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 3046089	NM_018897.3(DNAH7):c.*9C>T	DNAH7	Single nucleotide variant (3 prime UTR variant)	DNAH7-related disorder	GLikely benign
Select item 2236258	NM_018897.3(DNAH7):c.12053T>C (p.Leu4018Pro)	DNAH7 (L4018P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272904	NM_018897.3(DNAH7):c.12043G>A (p.Gly4015Ser)	DNAH7 (G4015S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732940	NM_018897.3(DNAH7):c.12041G>A (p.Arg4014Gln)	DNAH7 (R4014Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3272901	NM_018897.3(DNAH7):c.11996C>T (p.Ala3999Val)	DNAH7 (A3999V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 599650	NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp)	DNAH7 (R3983W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 715894	NM_018897.3(DNAH7):c.11934T>A (p.Tyr3978Ter)	DNAH7 (Y3978*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2262676	NM_018897.3(DNAH7):c.11911C>T (p.Pro3971Ser)	DNAH7 (P3971S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405307	NM_018897.3(DNAH7):c.11909G>A (p.Arg3970Gln)	DNAH7 (R3970Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590993	NM_018897.3(DNAH7):c.11891G>A (p.Arg3964Lys)	DNAH7 (R3964K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049162	NM_018897.3(DNAH7):c.11871G>A (p.Met3957Ile)	DNAH7 (M3957I)	Single nucleotide variant (missense variant)	DNAH7-related disorder	GLikely benign
Select item 2348660	NM_018897.3(DNAH7):c.11854G>C (p.Asp3952His)	DNAH7 (D3952H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257191	NM_018897.3(DNAH7):c.11854G>A (p.Asp3952Asn)	DNAH7 (D3952N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084089	NM_018897.3(DNAH7):c.11747A>G (p.Lys3916Arg)	DNAH7 (K3916R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718311	NM_018897.3(DNAH7):c.11720A>G (p.Tyr3907Cys)	DNAH7 (Y3907C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2234916	NM_018897.3(DNAH7):c.11695C>A (p.Pro3899Thr)	DNAH7 (P3899T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208306	NM_018897.3(DNAH7):c.11659G>A (p.Gly3887Ser)	DNAH7 (G3887S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084088	NM_018897.3(DNAH7):c.11642C>T (p.Thr3881Ile)	DNAH7 (T3881I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709627	NM_018897.3(DNAH7):c.11555A>G (p.Asn3852Ser)	DNAH7 (N3852S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2238337	NM_018897.3(DNAH7):c.11524C>G (p.Pro3842Ala)	DNAH7 (P3842A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455343	NM_018897.3(DNAH7):c.11477G>C (p.Ser3826Thr)	DNAH7 (S3826T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341670	NM_018897.3(DNAH7):c.11437C>T (p.Leu3813Phe)	DNAH7 (L3813F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343144	NM_018897.3(DNAH7):c.11434-1G>A	DNAH7	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2384090	NM_018897.3(DNAH7):c.11405C>T (p.Ser3802Leu)	DNAH7 (S3802L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489368	NM_018897.3(DNAH7):c.11396T>C (p.Ile3799Thr)	DNAH7 (I3799T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272926	NM_018897.3(DNAH7):c.11372G>A (p.Arg3791Gln)	DNAH7 (R3791Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463776	NM_018897.3(DNAH7):c.11330A>G (p.Tyr3777Cys)	DNAH7 (Y3777C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084086	NM_018897.3(DNAH7):c.11326A>G (p.Thr3776Ala)	DNAH7 (T3776A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342417	NM_018897.3(DNAH7):c.11315G>C (p.Arg3772Thr)	DNAH7 (R3772T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396803	NM_018897.3(DNAH7):c.11302G>C (p.Ala3768Pro)	DNAH7 (A3768P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272905	NM_018897.3(DNAH7):c.11257G>A (p.Ala3753Thr)	DNAH7 (A3753T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509716	NM_018897.3(DNAH7):c.11237A>G (p.Asp3746Gly)	DNAH7 (D3746G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084085	NM_018897.3(DNAH7):c.11138A>G (p.Asn3713Ser)	DNAH7 (N3713S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468113	NM_018897.3(DNAH7):c.11128A>G (p.Met3710Val)	DNAH7 (M3710V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266790	NM_018897.3(DNAH7):c.11105C>T (p.Thr3702Ile)	DNAH7 (T3702I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084084	NM_018897.3(DNAH7):c.11081A>C (p.Glu3694Ala)	DNAH7 (E3694A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084083	NM_018897.3(DNAH7):c.11071A>G (p.Ser3691Gly)	DNAH7 (S3691G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3257420	NM_018897.3(DNAH7):c.11059G>A (p.Gly3687Ser)	DNAH7 (G3687S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2406050	NM_018897.3(DNAH7):c.11047G>A (p.Val3683Ile)	DNAH7 (V3683I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084082	NM_018897.3(DNAH7):c.11018A>G (p.Tyr3673Cys)	DNAH7 (Y3673C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067995	NM_018897.3(DNAH7):c.10971C>A (p.Ser3657Arg)	DNAH7 (S3657R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GUncertain significance
Select item 2235851	NM_018897.3(DNAH7):c.10960A>G (p.Thr3654Ala)	DNAH7 (T3654A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350291	NM_018897.3(DNAH7):c.10954C>T (p.Arg3652Trp)	DNAH7 (R3652W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514357	NM_018897.3(DNAH7):c.10924T>G (p.Tyr3642Asp)	DNAH7 (Y3642D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342662	NM_018897.3(DNAH7):c.10903T>G (p.Tyr3635Asp)	DNAH7 (Y3635D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 709628	NM_018897.3(DNAH7):c.10901G>A (p.Arg3634Gln)	DNAH7 (R3634Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3039984	NM_018897.3(DNAH7):c.10894G>A (p.Ala3632Thr)	DNAH7 (A3632T)	Single nucleotide variant (missense variant)	DNAH7-related disorder	GLikely benign
Select item 2628398	NM_018897.3(DNAH7):c.10878G>A (p.Glu3626=)	DNAH7	Single nucleotide variant (synonymous variant)	DNAH7-related disorder	GUncertain significance
Select item 3084081	NM_018897.3(DNAH7):c.10777C>T (p.Arg3593Trp)	DNAH7 (R3593W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 375378	NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu)	DNAH7 (F3585L)	Single nucleotide variant (missense variant)	Abnormal muscle tone +4 more	GPathogenic
Select item 723464	NM_018897.3(DNAH7):c.10697T>C (p.Phe3566Ser)	DNAH7 (F3566S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3040767	NM_018897.3(DNAH7):c.10689G>A (p.Pro3563=)	DNAH7	Single nucleotide variant (synonymous variant)	DNAH7-related disorder	GLikely benign
Select item 3272916	NM_018897.3(DNAH7):c.10676C>T (p.Pro3559Leu)	DNAH7 (P3559L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 809131	NM_018897.3(DNAH7):c.10657C>G (p.Arg3553Gly)	DNAH7 (R3553G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3084080	NM_018897.3(DNAH7):c.10621A>T (p.Asn3541Tyr)	DNAH7 (N3541Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500172	NM_018897.3(DNAH7):c.10601A>G (p.Gln3534Arg)	DNAH7 (Q3534R)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GPathogenic
Select item 3372334	NM_018897.3(DNAH7):c.10585C>T (p.Pro3529Ser)	DNAH7 (P3529S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560264	NM_018897.3(DNAH7):c.10576C>T (p.Pro3526Ser)	DNAH7 (P3526S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 725184	NM_018897.3(DNAH7):c.10573T>A (p.Ser3525Thr)	DNAH7 (S3525T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3084079	NM_018897.3(DNAH7):c.10550G>A (p.Arg3517Gln)	DNAH7 (R3517Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487875	NM_018897.3(DNAH7):c.10525C>T (p.Pro3509Ser)	DNAH7 (P3509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543085	NM_018897.3(DNAH7):c.10495A>T (p.Thr3499Ser)	DNAH7 (T3499S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549209	NM_018897.3(DNAH7):c.10484C>T (p.Ser3495Phe)	DNAH7 (S3495F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057809	NM_018897.3(DNAH7):c.10473C>T (p.His3491=)	DNAH7	Single nucleotide variant (synonymous variant)	DNAH7-related disorder	GLikely benign
Select item 729739	NM_018897.3(DNAH7):c.10453del (p.Val3485fs)	DNAH7 (V3485fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2606412	NM_018897.3(DNAH7):c.10432G>T (p.Ala3478Ser)	DNAH7 (A3478S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411169	NM_018897.3(DNAH7):c.10393C>G (p.Gln3465Glu)	DNAH7 (Q3465E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2500168	NM_018897.3(DNAH7):c.10390G>A (p.Gly3464Ser)	DNAH7 (G3464S)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 50	GPathogenic
Select item 3272915	NM_018897.3(DNAH7):c.10372C>T (p.Leu3458Phe)	DNAH7 (L3458F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510919	NM_018897.3(DNAH7):c.10372C>G (p.Leu3458Val)	DNAH7 (L3458V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672855	NM_018897.3(DNAH7):c.10342G>A (p.Ala3448Thr)	DNAH7 (A3448T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3272892	NM_018897.3(DNAH7):c.10337A>C (p.Lys3446Thr)	DNAH7 (K3446T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084078	NM_018897.3(DNAH7):c.10322T>C (p.Met3441Thr)	DNAH7 (M3441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407105	NM_018897.3(DNAH7):c.10310G>C (p.Gly3437Ala)	DNAH7 (G3437A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327075	NM_018897.3(DNAH7):c.10297G>A (p.Val3433Met)	DNAH7 (V3433M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 69469	NM_018897.3(DNAH7):c.10296C>T (p.Phe3432=)	DNAH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727715	NM_018897.3(DNAH7):c.10290G>A (p.Leu3430=)	DNAH7	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2651773	NM_018897.3(DNAH7):c.10278C>T (p.Cys3426=)	DNAH7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3084077	NM_018897.3(DNAH7):c.10241C>G (p.Pro3414Arg)	DNAH7 (P3414R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3272908	NM_018897.3(DNAH7):c.10240C>G (p.Pro3414Ala)	DNAH7 (P3414A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322547	NM_018897.3(DNAH7):c.10237C>T (p.Pro3413Ser)	DNAH7 (P3413S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084076	NM_018897.3(DNAH7):c.10219C>T (p.Arg3407Cys)	DNAH7 (R3407C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456187	NM_018897.3(DNAH7):c.10217G>T (p.Gly3406Val)	DNAH7 (G3406V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524612	NM_018897.3(DNAH7):c.10186A>G (p.Met3396Val)	DNAH7 (M3396V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455834	NM_018897.3(DNAH7):c.10033A>G (p.Arg3345Gly)	DNAH7 (R3345G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3342880	NM_018897.3(DNAH7):c.10001dup (p.Leu3334fs)	DNAH7 (L3334fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 788641	NM_018897.3(DNAH7):c.9985G>A (p.Asp3329Asn)	DNAH7 (D3329N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 402748	NM_018897.3(DNAH7):c.9956T>C (p.Leu3319Pro)	DNAH7 (L3319P)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign

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