ClinVar for MedGen (Select 1648308) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25848961.	NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu) GRCh37: Chr17:48653570 GRCh38: Chr17:50576209	CACNA1G	K603E	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance	criteria provided, single submitter
Select item 25002662.	NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val) GRCh37: Chr17:48668891 GRCh38: Chr17:50591530	CACNA1G	A850V	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Likely pathogenic (Sep 12, 2022)	criteria provided, single submitter
Select item 24287643.	NM_018896.5(CACNA1G):c.7007C>T (p.Pro2336Leu) GRCh37: Chr17:48703985 GRCh38: Chr17:50626624	CACNA1G	P2130L, P2153L, P2164L, P2186L, P2191L, P2198L, P2202L, P2205L, P2207L, P2209L, P2216L, P2218L, P2220L, P2225L, P2232L, P2236L, P2243L, P2246L, P2250L, P2257L, P2265L, P2273L, P2280L, P2291L, P2302L, P2325L, P2336L	not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Conflicting interpretations of pathogenicity (Dec 29, 2021)	criteria provided, conflicting interpretations
Select item 18059884.	NM_018896.5(CACNA1G):c.3896A>G (p.Lys1299Arg) GRCh37: Chr17:48678516 GRCh38: Chr17:50601155	CACNA1G	K1276R, K1299R	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (May 26, 2020)	criteria provided, single submitter
Select item 18040785.	NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr) GRCh37: Chr17:48685267 GRCh38: Chr17:50607906	CACNA1G	M1506T, M1508T, M1531T	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Likely pathogenic (May 12, 2021)	criteria provided, single submitter
Select item 18032046.	NM_018896.5(CACNA1G):c.3229C>T (p.Pro1077Ser) GRCh37: Chr17:48674255 GRCh38: Chr17:50596894	CACNA1G	P1054S, P1077S	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Jun 17, 2021)	criteria provided, single submitter
Select item 17053737.	NM_018896.5(CACNA1G):c.907G>A (p.Glu303Lys) GRCh37: Chr17:48650075 GRCh38: Chr17:50572714	CACNA1G	E303K	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 16837018.	NM_018896.5(CACNA1G):c.5125C>T (p.Arg1709Cys) GRCh37: Chr17:48694902 GRCh38: Chr17:50617541	CACNA1G	R1652C, R1657C, R1664C, R1668C, R1671C, R1673C, R1675C, R1682C, R1686C, R1691C, R1698C, R1709C, R1716C	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 13423949.	NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) GRCh37: Chr17:48697168 GRCh38: Chr17:50619807	CACNA1G	L1924P, L1935P, L1951P, L1958P, L1969P	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (May 18, 2021)	criteria provided, single submitter
Select item 134233210.	NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) GRCh37: Chr17:48703936 GRCh38: Chr17:50626575	CACNA1G	G2114C, G2137C, G2148C, G2170C, G2175C, G2182C, G2186C, G2189C, G2191C, G2193C, G2200C, G2202C, G2204C, G2209C, G2216C, G2220C, G2227C, G2230C, G2234C, G2241C, G2249C, G2257C, G2264C, G2275C, G2286C, G2309C, G2320C	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Mar 13, 2021)	criteria provided, single submitter
Select item 134194311.	NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) GRCh37: Chr17:48703634 GRCh38: Chr17:50626273	CACNA1G	T2069M, T2074M, T2081M, T2085M, T2088M, T2090M, T2092M, T2099M, T2101M, T2103M, T2108M, T2115M, T2119M, T2126M, T2129M, T2133M, T2140M, T2148M, T2156M, T2163M, T2174M, T2185M, T2208M, T2219M	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Jun 12, 2020)	criteria provided, single submitter
Select item 133287712.	NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu) GRCh37: Chr17:48685269 GRCh38: Chr17:50607908	CACNA1G	F1505L, F1507L, F1509L, F1532L	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Likely pathogenic	no assertion criteria provided
Select item 132950113.	NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr) GRCh37: Chr17:48669428 GRCh38: Chr17:50592067	CACNA1G	I962T	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, Spinocerebellar ataxia type 42	Uncertain significance (Jul 1, 2021)	criteria provided, single submitter
Select item 127613014.	NM_018896.5(CACNA1G):c.1479C>T (p.His493=) GRCh37: Chr17:48653242 GRCh38: Chr17:50575881	CACNA1G		Spinocerebellar ataxia type 42, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121377815.	NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) GRCh37: Chr17:48703747 GRCh38: Chr17:50626386	CACNA1G	R2051W, R2074W, R2085W, R2107W, R2112W, R2119W, R2123W, R2126W, R2128W, R2130W, R2137W, R2139W, R2141W, R2146W, R2153W, R2157W, R2164W, R2167W, R2171W, R2178W, R2186W, R2194W, R2201W, R2212W, R2223W, R2246W, R2257W	not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119260616.	NM_018896.5(CACNA1G):c.6774T>C (p.Pro2258=) GRCh37: Chr17:48703752 GRCh38: Chr17:50626391	CACNA1G		Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided, Spinocerebellar ataxia type 42	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119260517.	NM_018896.5(CACNA1G):c.3792-87A>T GRCh37: Chr17:48678325 GRCh38: Chr17:50600964	CACNA1G		Spinocerebellar ataxia type 42, not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119260418.	NM_018896.5(CACNA1G):c.1925-56A>G GRCh37: Chr17:48655493 GRCh38: Chr17:50578132	CACNA1G		Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided, Spinocerebellar ataxia type 42	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119260319.	NM_018896.5(CACNA1G):c.1141-29A>G GRCh37: Chr17:48652875 GRCh38: Chr17:50575514	CACNA1G		Spinocerebellar ataxia type 42, not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119260220.	NM_018896.5(CACNA1G):c.1141-71C>T GRCh37: Chr17:48652833 GRCh38: Chr17:50575472	CACNA1G		Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided, Spinocerebellar ataxia type 42	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119260121.	NM_018896.5(CACNA1G):c.489-56T>G GRCh37: Chr17:48647011 GRCh38: Chr17:50569650	CACNA1G		Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided, Spinocerebellar ataxia type 42	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 109872722.	NM_018896.5(CACNA1G):c.6309C>T (p.Leu2103=) GRCh37: Chr17:48701800 GRCh38: Chr17:50624439	CACNA1G		not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106457323.	NM_018896.5(CACNA1G):c.2979+1G>T GRCh37: Chr17:48672423 GRCh38: Chr17:50595062	CACNA1G		Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided	Uncertain significance (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103067924.	NM_018896.5(CACNA1G):c.4325A>G (p.Gln1442Arg) GRCh37: Chr17:48683287 GRCh38: Chr17:50605926	CACNA1G	Q1419R, Q1442R	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Aug 12, 2020)	criteria provided, single submitter
Select item 98269425.	NM_018896.5(CACNA1G):c.5161A>T (p.Lys1721Ter) GRCh37: Chr17:48695225 GRCh38: Chr17:50617864	CACNA1G	K1664, K1669, K1676, K1680, K1683, K1685, K1687, K1694, K1698, K1703, K1710, K1721, K1728*	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 93169226.	NM_018896.5(CACNA1G):c.2185T>C (p.Trp729Arg) GRCh37: Chr17:48655809 GRCh38: Chr17:50578448	CACNA1G	W729R	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Oct 2, 2019)	criteria provided, single submitter
Select item 93084427.	NM_018896.5(CACNA1G):c.4675C>T (p.Arg1559Cys) GRCh37: Chr17:48685350 GRCh38: Chr17:50607989	CACNA1G	R1534C, R1525C, R1532C, R1502C, R1536C, R1559C	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Nov 5, 2018)	criteria provided, single submitter
Select item 93051628.	NM_018896.5(CACNA1G):c.6485C>A (p.Pro2162His) GRCh37: Chr17:48703463 GRCh38: Chr17:50626102	CACNA1G	P2012H, P2024H, P2099H, P2117H, P2128H, P2151H, P2028H, P2031H, P2033H, P2042H, P2044H, P2062H, P2072H, P2076H, P2046H, P2051H, P2106H, P2162H, P2017H, P2035H, P2058H, P2069H, P2083H, P2091H	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Jul 26, 2019)	criteria provided, single submitter
Select item 93051529.	NM_018896.5(CACNA1G):c.1998C>A (p.Ser666Arg) GRCh37: Chr17:48655622 GRCh38: Chr17:50578261	CACNA1G	S666R	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Jul 26, 2019)	criteria provided, single submitter
Select item 87146430.	NM_018896.5(CACNA1G):c.5695GACAGCCCC[1] (p.1899DSP[1]) GRCh37: Chr17:48696278-48696286 GRCh38: Chr17:50618917-50618925	CACNA1G		Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 79017931.	NM_018896.5(CACNA1G):c.1589G>A (p.Arg530His) GRCh37: Chr17:48653352 GRCh38: Chr17:50575991	CACNA1G	R530H	Spinocerebellar ataxia type 42, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77532632.	NM_018896.5(CACNA1G):c.354+5GT[13] GRCh37: Chr17:48646347-48646350 GRCh38: Chr17:50568986-50568989	CACNA1G		not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not specified	Conflicting interpretations of pathogenicity (May 4, 2022)	criteria provided, conflicting interpretations
Select item 63851533.	NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) GRCh37: Chr17:48676808 GRCh38: Chr17:50599447	CACNA1G	P1093L, P1070L	Spinocerebellar ataxia type 42, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, Inborn genetic diseases	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63850334.	NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) GRCh37: Chr17:48680542 GRCh38: Chr17:50603181	CACNA1G	R1384Q, R1361Q	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 55958135.	NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) GRCh37: Chr17:48685266 GRCh38: Chr17:50607905	CACNA1G	M1531V, M1508V, M1506V	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Pathogenic (Jun 11, 2020)	criteria provided, single submitter
Select item 42688336.	NM_018896.5(CACNA1G):c.6949G>A (p.Glu2317Lys) GRCh37: Chr17:48703927 GRCh38: Chr17:50626566	CACNA1G	E2317K, E2145K, E2213K, E2227K, E2238K, E2254K, E2111K, E2167K, E2172K, E2190K, E2199K, E2201K, E2217K, E2224K, E2261K, E2306K, E2134K, E2179K, E2186K, E2206K, E2231K, E2283K, E2183K, E2188K, E2197K, E2246K, E2272K	not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Uncertain significance (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37761737.	NM_018896.5(CACNA1G):c.1591C>A (p.Arg531=) GRCh37: Chr17:48653354 GRCh38: Chr17:50575993	CACNA1G		not provided, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not specified, Spinocerebellar ataxia type 42	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28026938.	NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) GRCh37: Chr17:48669424 GRCh38: Chr17:50592063	CACNA1G	A961T	Inborn genetic diseases, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided	Conflicting interpretations of pathogenicity (Jul 10, 2023)	criteria provided, conflicting interpretations
Select item 22198139.	NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) GRCh37: Chr17:48694921 GRCh38: Chr17:50617560	CACNA1G	R1715H, R1670H, R1681H, R1704H, R1677H, R1688H, R1697H, R1663H, R1658H, R1674H, R1679H, R1692H, R1722H	Spinocerebellar ataxia type 42, Spinocerebellar ataxia type 42, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, not provided	Pathogenic (May 13, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 39