51168[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148088	GRCh38/hg38 17p12-11.2(chr17:15210400-18280816)x3	ADORA2B, ALKBH5 +216 more	Copy number gain	See cases	GPathogenic
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	LOC130060373, LOC130060374 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	ADORA2B, AKAP10 +314 more	Copy number loss	See cases	GPathogenic
Select item 56996	GRCh38/hg38 17p12-11.2(chr17:15776915-18771753)x1	ADORA2B, ALKBH5 +217 more	Copy number loss	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	LOC130060409, LOC130060410 +311 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 60429	GRCh38/hg38 17p12-11.2(chr17:15952071-18362819)x1	ADORA2B, ALKBH5 +199 more	Copy number loss	See cases	GPathogenic
Select item 60433	GRCh38/hg38 17p11.2(chr17:16117885-18362819)x1	ALKBH5, ATPAF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	AKAP10, ALDH3A1 +281 more	Copy number gain	See cases	GPathogenic
Select item 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	LOC130060441, LOC130060442 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	SNORD3B-2, SNORD3C +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	LOC132090457, LOC132090458 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 154919	GRCh38/hg38 17p11.2(chr17:16734588-18834703)x1	ALKBH5, ATPAF2 +158 more	Copy number loss	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146492	GRCh38/hg38 17p11.2(chr17:16734588-18333372)x1	ALKBH5, ATPAF2 +141 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	LOC130060388, LOC130060389 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	FLII, FOXO3B +250 more	Copy number gain	See cases	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	FAM106A, FAM106B +248 more	Duplication	Autism	GPathogenic
Select item 60439	GRCh38/hg38 17p11.2(chr17:16817557-18362819)x1	ALKBH5, ATPAF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	LOC130060437, LOC130060438 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	LOC130060452, LOC130060453 +244 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	LOC130060350, LOC130060351 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	LOC130060452, LOC130060453 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	LOC130060362, LOC130060363 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 153282	GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	ALKBH5, ATPAF2 +143 more	Copy number loss	See cases	GPathogenic
Select item 60458	GRCh38/hg38 17p11.2(chr17:17150076-18415759)x1	ALKBH5, ATPAF2 +117 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 58694	GRCh38/hg38 17p11.2(chr17:17667721-18301995)x3	ALKBH5, ATPAF2 +67 more	Copy number gain	See cases	GPathogenic
Select item 150383	GRCh38/hg38 17p11.2(chr17:17748602-18551638)x3	ALKBH5, ATPAF2 +70 more	Copy number gain	See cases	GLikely benign
Select item 146600	GRCh38/hg38 17p11.2(chr17:17788412-18333372)x1	ALKBH5, ATPAF2 +54 more	Copy number loss	See cases	GPathogenic
Select item 154395	GRCh38/hg38 17p11.2(chr17:18077127-18521388)x3	ALKBH5, DRG2 +30 more	Copy number gain	See cases	GPathogenic
Select item 322100	NM_016239.3(MYO15A):c.-327C>T	LOC105371566, MYO15A	Single nucleotide variant	Nonsyndromic Hearing Loss, Recessive	GUncertain significance
Select item 892286	NM_016239.4(MYO15A):c.-236C>A	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 322101	NM_016239.4(MYO15A):c.-227G>A	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 892287	NM_016239.4(MYO15A):c.-224C>T	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 892288	NM_016239.4(MYO15A):c.-223G>T	LOC105371566, MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 1261079	NM_016239.4(MYO15A):c.-219-289G>A	MYO15A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 322102	NM_016239.4(MYO15A):c.-219-14T>C	MYO15A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 322103	NM_016239.4(MYO15A):c.-203C>T	MYO15A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 322104	NM_016239.4(MYO15A):c.-173T>A	MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 322105	NM_016239.4(MYO15A):c.-144G>A	MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 322106	NM_016239.4(MYO15A):c.-76A>C	MYO15A	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 322107	NM_016239.4(MYO15A):c.-33G>C	MYO15A	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 3	GUncertain significance
Select item 2715192	NM_016239.4(MYO15A):c.5C>G (p.Ala2Gly)	MYO15A (A2G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1975915	NM_016239.4(MYO15A):c.9G>A (p.Lys3=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006514	NM_016239.4(MYO15A):c.21G>A (p.Glu7=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1365295	NM_016239.4(MYO15A):c.23A>T (p.Glu8Val)	MYO15A (E8V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955657	NM_016239.4(MYO15A):c.28_31del (p.Lys10fs)	MYO15A (K10fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2261772	NM_016239.4(MYO15A):c.25A>C (p.Lys9Gln)	MYO15A (K9Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1706211	NM_016239.4(MYO15A):c.25A>G (p.Lys9Glu)	MYO15A (K9E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 593188	NM_016239.4(MYO15A):c.32_40del (p.Ala11_Lys13del)	MYO15A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3012837	NM_016239.4(MYO15A):c.27G>A (p.Lys9=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1704060	NM_016239.4(MYO15A):c.32C>A (p.Ala11Asp)	MYO15A (A11D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012593	NM_016239.4(MYO15A):c.33C>T (p.Ala11=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2767057	NM_016239.4(MYO15A):c.33C>G (p.Ala11=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007723	NM_016239.4(MYO15A):c.51G>C (p.Gly17=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735995	NM_016239.4(MYO15A):c.51G>T (p.Gly17=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 260700	NM_016239.4(MYO15A):c.54G>A (p.Lys18=)	MYO15A	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 888885	NM_016239.4(MYO15A):c.63G>A (p.Pro21=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2995054	NM_016239.4(MYO15A):c.69G>A (p.Pro23=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834769	NM_016239.4(MYO15A):c.69G>T (p.Pro23=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2270856	NM_016239.4(MYO15A):c.77C>T (p.Pro26Leu)	MYO15A (P26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2859711	NM_016239.4(MYO15A):c.84G>T (p.Arg28=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982401	NM_016239.4(MYO15A):c.90G>A (p.Leu30=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985195	NM_016239.4(MYO15A):c.92del (p.Lys31fs)	MYO15A (K31fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2843539	NM_016239.4(MYO15A):c.93G>A (p.Lys31=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894576	NM_016239.4(MYO15A):c.99G>A (p.Thr33=)	MYO15A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490617	NM_016239.4(MYO15A):c.104G>C (p.Arg35Pro)	MYO15A (R35P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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