14446[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
Select item 3208599	NM_001302769.2(PARD3B):c.17G>A (p.Cys6Tyr)	PARD3B (C6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208618	NM_001302769.2(PARD3B):c.55G>A (p.Gly19Ser)	PARD3B (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248096	NM_001302769.2(PARD3B):c.145C>G (p.His49Asp)	PARD3B (H49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783350	NM_001302769.2(PARD3B):c.150C>T (p.His50=)	PARD3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 150829	GRCh38/hg38 2q33.3-34(chr2:204906843-210031449)x1	ADAM23, C2orf80 +131 more	Copy number loss	See cases	GPathogenic
Select item 2597154	NM_001302769.2(PARD3B):c.263T>C (p.Ile88Thr)	PARD3B (I88T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274140	NM_001302769.2(PARD3B):c.332A>G (p.Gln111Arg)	PARD3B (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042161	NM_001302769.2(PARD3B):c.365T>C (p.Ile122Thr)	PARD3B (I122T)	Single nucleotide variant (missense variant)	PARD3B-related disorder	GLikely benign
Select item 3208615	NM_001302769.2(PARD3B):c.374C>A (p.Thr125Asn)	PARD3B (T125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250885	NM_001302769.2(PARD3B):c.377C>T (p.Pro126Leu)	PARD3B (P126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232464	NM_001302769.2(PARD3B):c.379T>A (p.Ser127Thr)	PARD3B (S127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304318	NM_001302769.2(PARD3B):c.398C>T (p.Thr133Ile)	PARD3B (T133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304321	NM_001302769.2(PARD3B):c.455A>C (p.Gln152Pro)	PARD3B (Q152P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351142	NM_001302769.2(PARD3B):c.463G>A (p.Ala155Thr)	PARD3B (A155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208617	NM_001302769.2(PARD3B):c.478G>A (p.Gly160Ser)	PARD3B (G160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545254	NC_000002.12:g.(?_205102232)_(205198713_?)del	PARD3B	Deletion	Schizophrenia	GLikely pathogenic
Select item 2249460	NM_001302769.2(PARD3B):c.512C>T (p.Thr171Met)	PARD3B (T171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304316	NM_001302769.2(PARD3B):c.607A>G (p.Thr203Ala)	PARD3B (T203A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689651	NM_001302769.2(PARD3B):c.608C>A (p.Thr203Lys)	PARD3B (T203K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2323891	NM_001302769.2(PARD3B):c.615G>T (p.Glu205Asp)	PARD3B (E205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630340	NM_001302769.2(PARD3B):c.680+1_680+3dup	PARD3B	Duplication (splice donor variant)	PARD3B-related disorder	GUncertain significance
Select item 2380781	NM_001302769.2(PARD3B):c.733G>A (p.Glu245Lys)	PARD3B (E245K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3345136	NM_001302769.2(PARD3B):c.742T>G (p.Phe248Val)	PARD3B (F248V)	Single nucleotide variant (missense variant)	PARD3B-related disorder	GUncertain significance
Select item 2213287	NM_001302769.2(PARD3B):c.745C>T (p.His249Tyr)	PARD3B (H249Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463102	NM_001302769.2(PARD3B):c.748G>A (p.Glu250Lys)	PARD3B (E250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382697	NM_001302769.2(PARD3B):c.787G>A (p.Val263Ile)	PARD3B (V263I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325149	NM_001302769.2(PARD3B):c.795A>C (p.Lys265Asn)	PARD3B (K265N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475237	NM_001302769.2(PARD3B):c.821T>C (p.Phe274Ser)	PARD3B (F274S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326142	NM_001302769.2(PARD3B):c.842C>A (p.Pro281Gln)	PARD3B (P281Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304319	NM_001302769.2(PARD3B):c.847G>C (p.Val283Leu)	PARD3B (V283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208620	NM_001302769.2(PARD3B):c.853C>T (p.Leu285Phe)	PARD3B (L285F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294903	NM_001302769.2(PARD3B):c.859G>A (p.Val287Met)	PARD3B (V287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310698	NM_001302769.2(PARD3B):c.884A>G (p.Gln295Arg)	PARD3B (Q295R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265877	NM_001302769.2(PARD3B):c.886T>G (p.Tyr296Asp)	PARD3B (Y296D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271705	NM_001302769.2(PARD3B):c.950A>T (p.Lys317Ile)	PARD3B (K317I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269085	NM_001302769.2(PARD3B):c.952G>T (p.Val318Leu)	PARD3B (V318L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208594	NM_001302769.2(PARD3B):c.1001C>T (p.Thr334Ile)	PARD3B (T334I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304325	NM_001302769.2(PARD3B):c.1045C>G (p.Gln349Glu)	PARD3B (Q349E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304326	NM_001302769.2(PARD3B):c.1055G>A (p.Ser352Asn)	PARD3B (S352N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406534	NM_001302769.2(PARD3B):c.1061G>A (p.Arg354Gln)	PARD3B (R354Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458233	NM_001302769.2(PARD3B):c.1097C>T (p.Ser366Leu)	PARD3B (S366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285369	NM_001302769.2(PARD3B):c.1163A>G (p.Lys388Arg)	PARD3B (K388R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3304320	NM_001302769.2(PARD3B):c.1207T>C (p.Ser403Pro)	PARD3B (S403P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689653	NM_001302769.2(PARD3B):c.1222G>A (p.Gly408Ser)	PARD3B (G408S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2205599	NM_001302769.2(PARD3B):c.1225C>T (p.Pro409Ser)	PARD3B (P409S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341785	NM_001302769.2(PARD3B):c.1326C>A (p.Thr442=)	PARD3B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410763	NM_001302769.2(PARD3B):c.1331G>A (p.Arg444Gln)	PARD3B (R444Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570141	NM_001302769.2(PARD3B):c.1333A>G (p.Thr445Ala)	PARD3B (T445A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331672	NM_001302769.2(PARD3B):c.1381A>G (p.Thr461Ala)	PARD3B (T461A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337893	NM_001302769.2(PARD3B):c.1399G>A (p.Ala467Thr)	PARD3B (A467T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631702	NM_001302769.2(PARD3B):c.1610C>A (p.Ala537Asp)	PARD3B (A537D)	Single nucleotide variant (missense variant +1 more)	PARD3B-related disorder	GUncertain significance
Select item 150331	GRCh38/hg38 2q33.3(chr2:205163962-206491669)x4	ADAM23, CMKLR2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 2348382	NM_001302769.2(PARD3B):c.1634G>A (p.Arg545Gln)	PARD3B (R483Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484772	NM_001302769.2(PARD3B):c.1640A>G (p.Asn547Ser)	PARD3B (N547S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333640	NM_001302769.2(PARD3B):c.1672C>T (p.Leu558Phe)	PARD3B (L558F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689652	NM_001302769.2(PARD3B):c.1693G>A (p.Glu565Lys)	PARD3B (E503K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2283591	NM_001302769.2(PARD3B):c.1699A>T (p.Met567Leu)	PARD3B (M505L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374015	NM_001302769.2(PARD3B):c.1721T>C (p.Met574Thr)	PARD3B (M512T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208595	NM_001302769.2(PARD3B):c.1820A>G (p.Lys607Arg)	PARD3B (K545R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629011	NM_001302769.2(PARD3B):c.1882C>A (p.Leu628Met)	PARD3B (L566M +1 more)	Single nucleotide variant (missense variant)	PARD3B-related disorder	GUncertain significance
Select item 3208596	NM_001302769.2(PARD3B):c.1885C>T (p.His629Tyr)	PARD3B (H629Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208597	NM_001302769.2(PARD3B):c.1945G>A (p.Gly649Arg)	PARD3B (G587R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208598	NM_001302769.2(PARD3B):c.1982C>T (p.Pro661Leu)	PARD3B (P661L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545255	NC_000002.12:g.(?_205264941)_(205497509_?)del	PARD3B	Deletion	Schizophrenia	GLikely pathogenic
Select item 3208600	NM_001302769.2(PARD3B):c.2219G>A (p.Gly740Asp)	PARD3B (G678D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304323	NM_001302769.2(PARD3B):c.2266G>A (p.Glu756Lys)	PARD3B (E694K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304317	NM_001302769.2(PARD3B):c.2303G>A (p.Arg768Gln)	PARD3B (R768Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3304324	NM_001302769.2(PARD3B):c.2306C>T (p.Pro769Leu)	PARD3B (P769L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3025757	NM_001302769.2(PARD3B):c.2307G>A (p.Pro769=)	PARD3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2317088	NM_001302769.2(PARD3B):c.2382A>C (p.Glu794Asp)	PARD3B (E794D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342405	NM_001302769.2(PARD3B):c.2452C>T (p.Pro818Ser)	PARD3B (P749S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634087	NM_001302769.2(PARD3B):c.2473G>A (p.Glu825Lys)	PARD3B (E756K +2 more)	Single nucleotide variant (missense variant)	PARD3B-related disorder	GUncertain significance
Select item 2623992	NM_001302769.2(PARD3B):c.2476G>A (p.Asp826Asn)	PARD3B (D757N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208601	NM_001302769.2(PARD3B):c.2510C>T (p.Thr837Met)	PARD3B (T768M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306918	NM_001302769.2(PARD3B):c.2539G>A (p.Gly847Ser)	PARD3B (G785S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558779	NM_001302769.2(PARD3B):c.2566C>A (p.Arg856Ser)	PARD3B (R787S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208603	NM_001302769.2(PARD3B):c.2567G>A (p.Arg856His)	PARD3B (R787H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353595	NM_001302769.2(PARD3B):c.2567G>T (p.Arg856Leu)	PARD3B (R787L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296225	NM_001302769.2(PARD3B):c.2569A>C (p.Lys857Gln)	PARD3B (K857Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591088	NM_001302769.2(PARD3B):c.2601A>G (p.Ile867Met)	PARD3B (I798M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280077	NM_001302769.2(PARD3B):c.2660G>T (p.Gly887Val)	PARD3B (G818V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054213	NM_001302769.2(PARD3B):c.2732A>G (p.Glu911Gly)	PARD3B (E842G +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3304327	NM_001302769.2(PARD3B):c.2749G>A (p.Ala917Thr)	PARD3B (A848T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3033258	NM_001302769.2(PARD3B):c.2782A>G (p.Arg928Gly)	PARD3B (R859G +2 more)	Single nucleotide variant (missense variant +1 more)	PARD3B-related disorder	GLikely benign
Select item 2357667	NM_001302769.2(PARD3B):c.2844A>C (p.Glu948Asp)	PARD3B (E948D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316101	NM_001302769.2(PARD3B):c.2879G>A (p.Arg960Gln)	PARD3B (R960Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461474	NM_001302769.2(PARD3B):c.2921C>T (p.Pro974Leu)	PARD3B (P974L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208605	NM_001302769.2(PARD3B):c.2948C>G (p.Pro983Arg)	PARD3B (P914R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412300	NM_001302769.2(PARD3B):c.2950C>T (p.Arg984Trp)	PARD3B (R984W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339171	NM_001302769.2(PARD3B):c.2980G>C (p.Asp994His)	PARD3B (D994H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 994311	NM_001302769.2(PARD3B):c.3042C>T (p.Asp1014=)	PARD3B	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance

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