HIP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 57158	GRCh38/hg38 7q11.23(chr7:75065669-75704220)x1	GTF2IRD2B, HIP1 +22 more	Copy number loss	See cases	GUncertain significance
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 810104	NM_005338.7(HIP1):c.3037G>A (p.Gly1013Ser)	HIP1 (G1013S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035260	NM_005338.7(HIP1):c.3036T>C (p.Ala1012=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 3041842	NM_005338.7(HIP1):c.3027C>T (p.Tyr1009=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 2314564	NM_005338.7(HIP1):c.2992C>T (p.Arg998Cys)	HIP1 (R947C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346106	NM_005338.7(HIP1):c.2933G>A (p.Arg978His)	HIP1 (R949H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525887	NM_005338.7(HIP1):c.2932C>T (p.Arg978Cys)	HIP1 (R927C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282174	NM_005338.7(HIP1):c.2926A>G (p.Ile976Val)	HIP1 (I925V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351138	NM_005338.7(HIP1):c.2915C>T (p.Thr972Met)	HIP1 (T938M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377966	NM_005338.7(HIP1):c.2881G>A (p.Glu961Lys)	HIP1 (E927K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732291	NM_005338.7(HIP1):c.2865C>T (p.Ser955=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105881	NM_005338.7(HIP1):c.2861T>C (p.Ile954Thr)	HIP1 (I925T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551268	NM_005338.7(HIP1):c.2858C>G (p.Thr953Ser)	HIP1 (T902S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472274	NM_005338.7(HIP1):c.2842G>A (p.Gly948Ser)	HIP1 (G914S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519212	NM_005338.7(HIP1):c.2818C>T (p.Arg940Trp)	HIP1 (R889W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786546	NM_005338.7(HIP1):c.2807A>G (p.Gln936Arg)	HIP1 (Q936R +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3105880	NM_005338.7(HIP1):c.2798C>A (p.Ala933Asp)	HIP1 (A882D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055297	NM_005338.7(HIP1):c.2790C>T (p.Pro930=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GBenign
Select item 547016	NM_005338.7(HIP1):c.2732C>A (p.Ala911Asp)	HIP1 (A911D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2611364	NM_005338.7(HIP1):c.2724T>A (p.His908Gln)	HIP1 (H874Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316082	NM_005338.7(HIP1):c.2710A>C (p.Met904Leu)	HIP1 (M853L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240242	NM_005338.7(HIP1):c.2669C>T (p.Ala890Val)	HIP1 (A839V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739175	NM_005338.7(HIP1):c.2640C>G (p.Gly880=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3040771	NM_005338.7(HIP1):c.2559+7G>A	HIP1	Single nucleotide variant (intron variant)	HIP1-related disorder	GLikely benign
Select item 2459361	NM_005338.7(HIP1):c.2554G>A (p.Gly852Ser)	HIP1 (G852S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3105879	NM_005338.7(HIP1):c.2553C>A (p.Ser851Arg)	HIP1 (S817R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 871115	NM_005338.7(HIP1):c.2543T>C (p.Ile848Thr)	HIP1 (I848T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2610566	NM_005338.7(HIP1):c.2505G>T (p.Gln835His)	HIP1 (Q801H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3056008	NM_005338.7(HIP1):c.2496A>G (p.Gln832=)	HIP1	Single nucleotide variant (synonymous variant +1 more)	HIP1-related disorder	GBenign
Select item 789011	NM_005338.7(HIP1):c.2465+4G>A	HIP1	Single nucleotide variant (intron variant)	HIP1-related disorder +1 more	GBenign
Select item 810105	NM_005338.7(HIP1):c.2450T>C (p.Leu817Ser)	HIP1 (L817S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2473937	NM_005338.7(HIP1):c.2423C>T (p.Ser808Phe)	HIP1 (S808F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288443	NM_005338.7(HIP1):c.2395G>A (p.Ala799Thr)	HIP1 (A765T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105877	NM_005338.7(HIP1):c.2393C>T (p.Thr798Met)	HIP1 (T764M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266555	NM_005338.7(HIP1):c.2380A>G (p.Ile794Val)	HIP1 (I760V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523597	NM_005338.7(HIP1):c.2365G>A (p.Ala789Thr)	HIP1 (A789T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105876	NM_005338.7(HIP1):c.2362G>A (p.Ala788Thr)	HIP1 (A754T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591869	NM_005338.7(HIP1):c.2303T>C (p.Leu768Pro)	HIP1 (L768P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218937	NM_005338.7(HIP1):c.2267G>C (p.Cys756Ser)	HIP1 (C722S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 218671	NM_005338.7(HIP1):c.2245G>A (p.Asp749Asn)	HIP1 (D749N)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3105875	NM_005338.7(HIP1):c.2233C>G (p.Leu745Val)	HIP1 (L711V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752327	NM_005338.7(HIP1):c.2166C>T (p.Thr722=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 748420	NM_005338.7(HIP1):c.2103C>T (p.Asp701=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243724	NM_005338.7(HIP1):c.2032T>G (p.Tyr678Asp)	HIP1 (Y644D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050231	NM_005338.7(HIP1):c.2004C>T (p.Ile668=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 2354821	NM_005338.7(HIP1):c.2002A>G (p.Ile668Val)	HIP1 (I639V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494935	NM_005338.7(HIP1):c.1972C>G (p.Leu658Val)	HIP1 (L629V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 547017	NM_005338.7(HIP1):c.1843C>T (p.Leu615Phe)	HIP1 (L615F)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3105874	NM_005338.7(HIP1):c.1789G>C (p.Glu597Gln)	HIP1 (E563Q +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720272	NM_005338.7(HIP1):c.1785G>A (p.Arg595=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741516	NM_005338.7(HIP1):c.1758T>C (p.His586=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3105873	NM_005338.7(HIP1):c.1672A>G (p.Thr558Ala)	HIP1 (T524A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315528	NM_005338.7(HIP1):c.1609A>T (p.Ser537Cys)	HIP1 (S537C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374846	NM_005338.7(HIP1):c.1606G>A (p.Glu536Lys)	HIP1 (E502K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734953	NM_005338.7(HIP1):c.1576C>T (p.Arg526Trp)	HIP1 (R526W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 769719	NM_005338.7(HIP1):c.1530A>G (p.Lys510=)	HIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 729279	NM_005338.7(HIP1):c.1523G>A (p.Arg508Gln)	HIP1 (R508Q)	Single nucleotide variant (missense variant)	HIP1-related disorder +1 more	GBenign
Select item 773742	NM_005338.7(HIP1):c.1459C>A (p.Arg487=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder +1 more	GBenign
Select item 3043058	NM_005338.7(HIP1):c.1431G>A (p.Glu477=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 3105872	NM_005338.7(HIP1):c.1427G>T (p.Ser476Ile)	HIP1 (S447I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769330	NM_005338.7(HIP1):c.1375+9T>G	HIP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2353298	NM_005338.7(HIP1):c.1346A>G (p.Lys449Arg)	HIP1 (K415R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241934	NM_005338.7(HIP1):c.1301G>A (p.Arg434Gln)	HIP1 (R434Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723589	NM_005338.7(HIP1):c.1284C>T (p.Asp428=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 733320	NM_005338.7(HIP1):c.1281C>T (p.Ala427=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306116	NM_005338.7(HIP1):c.1268G>C (p.Arg423Pro)	HIP1 (R423P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105870	NM_005338.7(HIP1):c.1186A>G (p.Thr396Ala)	HIP1 (T367A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293699	NM_005338.7(HIP1):c.1081A>C (p.Asn361His)	HIP1 (N327H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657615	NM_005338.7(HIP1):c.1026A>G (p.Leu342=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2261065	NM_005338.7(HIP1):c.1024T>A (p.Leu342Ile)	HIP1 (L308I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730792	NM_005338.7(HIP1):c.969C>T (p.Ser323=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2289763	NM_005338.7(HIP1):c.851G>A (p.Arg284Gln)	HIP1 (R284Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729323	NM_005338.7(HIP1):c.846C>T (p.Phe282=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 761779	NM_005338.7(HIP1):c.816G>C (p.Leu272=)	HIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 790598	NM_005338.7(HIP1):c.788T>A (p.Met263Lys)	HIP1 (M263K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 711002	NM_005338.7(HIP1):c.775C>T (p.Arg259Trp)	HIP1 (R259W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2603967	NM_005338.7(HIP1):c.746G>C (p.Cys249Ser)	HIP1 (C215S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105884	NM_005338.7(HIP1):c.662G>A (p.Arg221His)	HIP1 (R187H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779918	NM_005338.7(HIP1):c.605-9A>G	HIP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2541136	NM_005338.7(HIP1):c.602C>T (p.Thr201Ile)	HIP1 (T201I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790599	NM_005338.7(HIP1):c.540C>T (p.Asn180=)	HIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3059356	NM_005338.7(HIP1):c.519T>C (p.Ala173=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GBenign
Select item 3040078	NM_005338.7(HIP1):c.405T>C (p.Tyr135=)	HIP1	Single nucleotide variant (synonymous variant)	HIP1-related disorder	GLikely benign
Select item 2216076	NM_005338.7(HIP1):c.390C>A (p.His130Gln)	HIP1 (H101Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105882	NM_005338.7(HIP1):c.356A>G (p.Asn119Ser)	HIP1 (N119S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492432	NM_005338.7(HIP1):c.353G>C (p.Arg118Thr)	HIP1 (R89T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735886	NM_005338.7(HIP1):c.324G>A (p.Pro108=)	HIP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign

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