15736[HGNC] - ClinVar

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Items: 87

	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 2648247	NM_030630.3(HID1):c.2360G>A (p.Arg787Gln)	HID1 (R787Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1700642	NM_030630.3(HID1):c.2318dup (p.Val774fs)	HID1 (V774fs)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy 105 with hypopituitarism	GPathogenic
Select item 2616117	NM_030630.3(HID1):c.2307T>A (p.Asn769Lys)	HID1 (N769K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250093	NM_030630.3(HID1):c.2267G>T (p.Trp756Leu)	HID1 (W756L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294798	NM_030630.3(HID1):c.2173C>T (p.Arg725Trp)	HID1 (R725W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065693	NM_030630.3(HID1):c.2157T>G (p.Asp719Glu)	HID1 (D719E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 105 with hypopituitarism	GUncertain significance
Select item 2409706	NM_030630.3(HID1):c.2092A>G (p.Met698Val)	HID1 (M698V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465904	NM_030630.3(HID1):c.2056C>G (p.Leu686Val)	HID1 (L686V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105804	NM_030630.3(HID1):c.2053G>A (p.Val685Ile)	HID1 (V685I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219736	NM_030630.3(HID1):c.2042C>T (p.Thr681Met)	HID1 (T681M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 986224	NM_030630.3(HID1):c.2002C>T (p.Arg668Ter)	HID1 (R668*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 2337199	NM_030630.3(HID1):c.1987T>C (p.Trp663Arg)	HID1 (W663R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487462	NM_030630.3(HID1):c.1981C>A (p.Gln661Lys)	HID1 (Q661K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218006	NM_030630.3(HID1):c.1979G>T (p.Ser660Ile)	HID1 (S660I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540130	NM_030630.3(HID1):c.1892A>C (p.Gln631Pro)	HID1 (Q631P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105803	NM_030630.3(HID1):c.1808G>T (p.Arg603Leu)	HID1 (R603L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542680	NM_030630.3(HID1):c.1808G>A (p.Arg603His)	HID1 (R603H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105802	NM_030630.3(HID1):c.1772C>A (p.Thr591Asn)	HID1 (T591N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621712	NM_030630.3(HID1):c.1766C>G (p.Ser589Cys)	HID1 (S589C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592313	NM_030630.3(HID1):c.1748G>A (p.Arg583Gln)	HID1 (R583Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284267	NM_030630.3(HID1):c.1747C>T (p.Arg583Trp)	HID1 (R583W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386055	NM_030630.3(HID1):c.1744C>T (p.Arg582Trp)	HID1 (R582W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105801	NM_030630.3(HID1):c.1666C>T (p.Arg556Cys)	HID1 (R556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267515	NM_030630.3(HID1):c.1606T>C (p.Phe536Leu)	HID1 (F536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105800	NM_030630.3(HID1):c.1559T>C (p.Phe520Ser)	HID1 (F520S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105799	NM_030630.3(HID1):c.1500G>A (p.Met500Ile)	HID1 (M500I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340876	NM_030630.3(HID1):c.1472T>C (p.Val491Ala)	HID1 (V491A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105798	NM_030630.3(HID1):c.1462G>A (p.Val488Met)	HID1 (V488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648248	NM_030630.3(HID1):c.1422C>T (p.His474=)	HID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105797	NM_030630.3(HID1):c.1364C>A (p.Thr455Lys)	HID1 (T455K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105796	NM_030630.3(HID1):c.1350C>A (p.Asp450Glu)	HID1 (D450E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105795	NM_030630.3(HID1):c.1337G>A (p.Arg446His)	HID1 (R446H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295394	NM_030630.3(HID1):c.1313G>A (p.Arg438Gln)	HID1 (R438Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325387	NM_030630.3(HID1):c.1312C>T (p.Arg438Trp)	HID1 (R438W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700641	NM_030630.3(HID1):c.1297C>T (p.Arg433Trp)	HID1	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 105 with hypopituitarism	GPathogenic
Select item 2332188	NM_030630.3(HID1):c.1277T>G (p.Leu426Trp)	HID1 (L426W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284270	NM_030630.3(HID1):c.1183G>A (p.Val395Ile)	HID1 (V395I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616172	NM_030630.3(HID1):c.1162T>C (p.Phe388Leu)	HID1 (F388L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780451	NM_030630.3(HID1):c.1149+7C>T	HID1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1098406	NM_030630.3(HID1):c.1149+1G>T	HID1	Single nucleotide variant (splice donor variant)	See cases	GLikely pathogenic
Select item 2477931	NM_030630.3(HID1):c.1145A>G (p.Asn382Ser)	HID1 (N382S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313550	NM_030630.3(HID1):c.1029G>T (p.Lys343Asn)	HID1 (K343N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 986225	NM_030630.3(HID1):c.1009-1G>T	HID1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2268960	NM_030630.3(HID1):c.991C>T (p.Arg331Cys)	HID1 (R331C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1298723	NM_030630.3(HID1):c.957dup (p.Gly320fs)	HID1 (G320fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2536290	NM_030630.3(HID1):c.922A>C (p.Thr308Pro)	HID1 (T308P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648249	NM_030630.3(HID1):c.870C>A (p.Val290=)	HID1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105809	NM_030630.3(HID1):c.839T>C (p.Leu280Pro)	HID1 (L280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375589	NM_030630.3(HID1):c.829C>T (p.Arg277Trp)	HID1 (R277W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308553	NM_030630.3(HID1):c.793G>C (p.Gly265Arg)	HID1 (G265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105808	NM_030630.3(HID1):c.776A>G (p.Tyr259Cys)	HID1 (Y259C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475788	NM_030630.3(HID1):c.731A>G (p.His244Arg)	HID1 (H244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274095	NM_030630.3(HID1):c.728+5del	HID1	Deletion (intron variant)	not provided	GBenign
Select item 782160	NM_030630.3(HID1):c.574C>T (p.His192Tyr)	HID1 (H192Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2553981	NM_030630.3(HID1):c.572C>T (p.Ala191Val)	HID1 (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1700643	NM_030630.3(HID1):c.560G>A (p.Gly187Asp)	HID1	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 105 with hypopituitarism	GPathogenic
Select item 3105806	NM_030630.3(HID1):c.509C>T (p.Ser170Leu)	HID1 (S170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226280	NM_030630.3(HID1):c.491G>A (p.Arg164Gln)	HID1 (R164Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466106	NM_030630.3(HID1):c.436C>T (p.Leu146Phe)	HID1 (L146F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362268	NM_030630.3(HID1):c.418C>T (p.Pro140Ser)	HID1 (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284266	NM_030630.3(HID1):c.406G>A (p.Glu136Lys)	HID1 (E136K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777217	NM_030630.3(HID1):c.388C>G (p.Gln130Glu)	HID1 (Q130E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3284268	NM_030630.3(HID1):c.308G>A (p.Arg103His)	HID1 (R103H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598408	NM_030630.3(HID1):c.260C>T (p.Ser87Leu)	HID1 (S87L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389395	NM_030630.3(HID1):c.152C>T (p.Pro51Leu)	HID1 (P51L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454555	NM_030630.3(HID1):c.125C>T (p.Ser42Leu)	HID1 (S42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399521	NM_030630.3(HID1):c.97G>A (p.Asp33Asn)	HID1 (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383845	NM_030630.3(HID1):c.89C>T (p.Ala30Val)	HID1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1098407	NM_030630.3(HID1):c.81_82delinsA (p.Asp28fs)	HID1 (D28fs)	Indel (frameshift variant)	See cases	GPathogenic
Select item 3284269	NM_030630.3(HID1):c.23T>C (p.Leu8Pro)	HID1, HID1-AS1 (L8P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063507	GRCh37/hg19 17q25.1(chr17:72875847-73484159)x3	ARMC7, ATP5PD +19 more	Copy number gain	not specified	GUncertain significance
Select item 2578017	GRCh37/hg19 17q25.1(chr17:72718277-74142256)	ACOX1, ARMC7 +52 more	Copy number gain	7q11.23 microduplication syndrome	GPathogenic
Select item 2498731	GRCh37/hg19 17q25.1(chr17:72864876-73328878)x1	ARMC7, ATP5PD +19 more	Copy number loss	not provided	GUncertain significance
Select item 815951	GRCh37/hg19 17q25.1(chr17:72945415-73414786)x3	ARMC7, ATP5PD +15 more	Copy number gain	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 625759	GRCh37/hg19 17q24.3-25.1(chr17:70720436-73175266)	BTBD17, ARMC7 +40 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564471	GRCh37/hg19 17q25.1(chr17:72962625-73281784)x3	ARMC7, ATP5PD +13 more	Copy number gain	not provided	GUncertain significance
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 493579	GRCh37/hg19 17q25.1(chr17:72901452-73518861)x3	ARMC7, ATP5PD +20 more	Copy number gain	not provided	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 87