ClinVar for Gene (Select 1186) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367156	NM_001287.6(CLCN7):c.456_459del (p.Gly153fs)	CLCN7 (G129fs +1 more)	Microsatellite (frameshift variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 3362438	NM_001287.6(CLCN7):c.1810A>G (p.Met604Val)	CLCN7 (M580V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
Select item 3361110	NM_001287.6(CLCN7):c.1077C>G (p.Asn359Lys)	CLCN7 (N335K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3345476	NM_001287.6(CLCN7):c.629A>C (p.Lys210Thr)	CLCN7 (K186T +1 more)	Single nucleotide variant (missense variant)	CLCN7-related disorder	GUncertain significance
Select item 3337916	NM_001287.6(CLCN7):c.40G>C (p.Asp14His)	CLCN7, LOC130058166 (D14H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336889	NM_001287.6(CLCN7):c.2116_2147dup (p.Pro716_Arg717insTer)	CLCN7	Duplication (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3267570	NM_001287.6(CLCN7):c.1219A>G (p.Ile407Val)	CLCN7 (I383V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267569	NM_001287.6(CLCN7):c.239C>T (p.Pro80Leu)	CLCN7 (P80L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3267567	NM_001287.6(CLCN7):c.2000C>T (p.Ala667Val)	CLCN7 (A643V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243623	NC_000016.9:g.(?_1524815)_(1524975_?)del	CLCN7	Deletion	not provided	GPathogenic
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3234962	NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)	CLCN7 (K186R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GUncertain significance
Select item 3233378	NM_001287.6(CLCN7):c.1806C>G (p.Tyr602Ter)	CLCN7 (Y578* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 3145431	NM_001287.6(CLCN7):c.616A>C (p.Ile206Leu)	CLCN7 (I182L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145430	NM_001287.6(CLCN7):c.391G>A (p.Ala131Thr)	CLCN7 (A107T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145429	NM_001287.6(CLCN7):c.2114G>A (p.Arg705His)	CLCN7 (R681H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3145428	NM_001287.6(CLCN7):c.1074C>G (p.Ile358Met)	CLCN7 (I358M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065777	NM_001287.6(CLCN7):c.1669+1G>C	CLCN7	Single nucleotide variant (splice donor variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 3064765	NM_001287.6(CLCN7):c.1394C>A (p.Ala465Asp)	CLCN7 (A441D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive osteopetrosis 4	GLikely pathogenic
Select item 3050610	NM_001287.6(CLCN7):c.1986C>A (p.Pro662=)	CLCN7	Single nucleotide variant (synonymous variant)	CLCN7-related disorder	GLikely benign
Select item 3036326	NM_001287.6(CLCN7):c.1324C>A (p.Gln442Lys)	CLCN7 (Q418K +1 more)	Single nucleotide variant (missense variant)	CLCN7-related disorder	GUncertain significance
Select item 3036284	NM_001287.6(CLCN7):c.2346G>C (p.Val782=)	CLCN7	Single nucleotide variant (synonymous variant)	CLCN7-related disorder	GLikely benign
Select item 3031467	NM_001287.6(CLCN7):c.1481C>T (p.Thr494Met)	CLCN7 (T470M +1 more)	Single nucleotide variant (missense variant)	CLCN7-related disorder	GUncertain significance
Select item 3031032	NM_001287.6(CLCN7):c.102G>A (p.Thr34=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	CLCN7-related disorder	GLikely benign
Select item 3023226	NM_001287.6(CLCN7):c.213G>A (p.Pro71=)	CLCN7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3022579	NM_001287.6(CLCN7):c.357C>T (p.Phe119=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022449	NM_001287.6(CLCN7):c.1743C>T (p.Phe581=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021713	NM_001287.6(CLCN7):c.286-20C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020288	NM_001287.6(CLCN7):c.753C>T (p.Ile251=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3020251	NM_001287.6(CLCN7):c.1353+20C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017984	NM_001287.6(CLCN7):c.66G>A (p.Pro22=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3016617	NM_001287.6(CLCN7):c.1632C>T (p.Pro544=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015500	NM_001287.6(CLCN7):c.1010C>A (p.Thr337Asn)	CLCN7 (T313N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014536	NM_001287.6(CLCN7):c.115G>C (p.Gly39Arg)	CLCN7, LOC130058166 (G39R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013823	NM_001287.6(CLCN7):c.136C>T (p.Arg46Cys)	CLCN7, LOC130058166 (R46C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009803	NM_001287.6(CLCN7):c.738+18G>A	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007844	NM_001287.6(CLCN7):c.738+11G>A	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007437	NM_001287.6(CLCN7):c.1291C>A (p.Leu431Met)	CLCN7 (L431M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006451	NM_001287.6(CLCN7):c.1670-5C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004669	NM_001287.6(CLCN7):c.163C>T (p.Arg55Ter)	CLCN7 (R55*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3004525	NM_001287.6(CLCN7):c.1618-12C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004503	NM_001287.6(CLCN7):c.1147G>A (p.Val383Met)	CLCN7 (V359M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002621	NM_001287.6(CLCN7):c.969G>A (p.Leu323=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999896	NM_001287.6(CLCN7):c.291G>A (p.Leu97=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999660	NM_001287.6(CLCN7):c.270G>A (p.Leu90=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998125	NM_001287.6(CLCN7):c.2332-8T>C	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993460	NM_001287.6(CLCN7):c.1427G>A (p.Ser476Asn)	CLCN7 (S476N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992663	NM_001287.6(CLCN7):c.1978G>A (p.Gly660Ser)	CLCN7 (G636S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992440	NM_001287.6(CLCN7):c.1365A>C (p.Ala455=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2992146	NM_001287.6(CLCN7):c.214-6C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991613	NM_001287.6(CLCN7):c.1798-5C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990550	NM_001287.6(CLCN7):c.550G>A (p.Ala184Thr)	CLCN7 (A160T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990404	NM_001287.6(CLCN7):c.1899A>G (p.Thr633=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989721	NM_001287.6(CLCN7):c.1403A>G (p.Asn468Ser)	CLCN7 (N468S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2988200	NM_001287.6(CLCN7):c.1837T>C (p.Phe613Leu)	CLCN7 (F613L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2987108	NM_001287.6(CLCN7):c.214-1G>A	CLCN7	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2986400	NM_001287.6(CLCN7):c.2331+13G>A	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986167	NM_001287.6(CLCN7):c.1928A>C (p.Lys643Thr)	CLCN7 (K619T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985915	NM_001287.6(CLCN7):c.1762A>G (p.Met588Val)	CLCN7 (M588V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985096	NM_001287.6(CLCN7):c.1353+16C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984698	NM_001287.6(CLCN7):c.484+16C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984375	NM_001287.6(CLCN7):c.1099-10C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984233	NM_001287.6(CLCN7):c.2403G>A (p.Ser801=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983945	NM_001287.6(CLCN7):c.595-20C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982872	NM_001287.6(CLCN7):c.2013+9C>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982624	NM_001287.6(CLCN7):c.1095G>A (p.Ser365=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982231	NM_001287.6(CLCN7):c.583G>T (p.Ala195Ser)	CLCN7 (A171S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981519	NM_001287.6(CLCN7):c.2250+17G>C	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981067	NM_001287.6(CLCN7):c.1A>G (p.Met1Val)	CLCN7, LOC130058166 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980094	NM_001287.6(CLCN7):c.1214+15C>A	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979936	NM_001287.6(CLCN7):c.1957G>A (p.Asp653Asn)	CLCN7 (D629N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2977483	NM_001287.6(CLCN7):c.1354-15C>G	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976541	NM_001287.6(CLCN7):c.1423G>A (p.Val475Met)	CLCN7 (V451M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975728	NM_001287.6(CLCN7):c.438C>T (p.Ile146=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974583	NM_001287.6(CLCN7):c.823-7G>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973576	NM_001287.6(CLCN7):c.1899A>C (p.Thr633=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972164	NM_001287.6(CLCN7):c.2402C>G (p.Ser801Trp)	CLCN7 (S801W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971029	NM_001287.6(CLCN7):c.1252_1253inv (p.Val418Thr)	CLCN7 (V394T +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2970931	NM_001287.6(CLCN7):c.1737C>T (p.Tyr579=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969682	NM_001287.6(CLCN7):c.510C>T (p.Gly170=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969606	NM_001287.6(CLCN7):c.559G>A (p.Val187Met)	CLCN7 (V163M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969043	NM_001287.6(CLCN7):c.1670-20G>T	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967826	NM_001287.6(CLCN7):c.1214+17T>C	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965596	NM_001287.6(CLCN7):c.91G>A (p.Gly31Ser)	CLCN7, LOC130058166 (G31S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965592	NM_001287.6(CLCN7):c.351+7T>C	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965295	NM_001287.6(CLCN7):c.465G>A (p.Lys155=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964346	NM_001287.6(CLCN7):c.1605C>G (p.Leu535=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963066	NM_001287.6(CLCN7):c.1834C>G (p.Pro612Ala)	CLCN7 (P588A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2961537	NM_001287.6(CLCN7):c.917-16G>A	CLCN7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960149	NM_001287.6(CLCN7):c.1407C>T (p.Thr469=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916199	NM_001287.6(CLCN7):c.1004C>T (p.Thr335Met)	CLCN7 (T335M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2908119	NM_001287.6(CLCN7):c.1770C>G (p.Ala590=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907891	NM_001287.6(CLCN7):c.552C>T (p.Ala184=)	CLCN7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907478	NM_001287.6(CLCN7):c.746C>A (p.Pro249Gln)	CLCN7 (P225Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2905221	NM_001287.6(CLCN7):c.877G>T (p.Ala293Ser)	CLCN7 (A269S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2899192	NM_001287.6(CLCN7):c.1798-10CCGC[3]	CLCN7	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2896909	NM_001287.6(CLCN7):c.42C>T (p.Asp14=)	CLCN7, LOC130058166	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894808	NM_001287.6(CLCN7):c.1783G>A (p.Asp595Asn)	CLCN7 (D571N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2892728	NM_001287.6(CLCN7):c.2176G>A (p.Val726Met)	CLCN7 (V702M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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