29951[Gene ID] - ClinVar

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Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 58210	GRCh38/hg38 12q12(chr12:39651727-41240339)x3	CNTN1, LINC01779 +25 more	Copy number gain	See cases	GUncertain significance
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 145394	GRCh38/hg38 12q12(chr12:40892503-41334848)x3	CNTN1, LOC126861507 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2266072	NM_001164595.2(PDZRN4):c.50A>G (p.Glu17Gly)	PDZRN4 (E17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211252	NM_001164595.2(PDZRN4):c.65G>A (p.Gly22Asp)	PDZRN4 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211253	NM_001164595.2(PDZRN4):c.79G>C (p.Glu27Gln)	PDZRN4 (E27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211229	NM_001164595.2(PDZRN4):c.130C>T (p.Pro44Ser)	PDZRN4 (P44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211234	NM_001164595.2(PDZRN4):c.171G>T (p.Gln57His)	PDZRN4 (Q57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211236	NM_001164595.2(PDZRN4):c.181C>G (p.Pro61Ala)	PDZRN4 (P61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364492	NM_001164595.2(PDZRN4):c.272C>T (p.Ser91Leu)	PDZRN4 (S91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211245	NM_001164595.2(PDZRN4):c.278G>A (p.Arg93Lys)	PDZRN4 (R93K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516515	NM_001164595.2(PDZRN4):c.307C>G (p.His103Asp)	PDZRN4 (H103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233245	NM_001164595.2(PDZRN4):c.325G>A (p.Ala109Thr)	PDZRN4 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211248	NM_001164595.2(PDZRN4):c.331C>G (p.Arg111Gly)	PDZRN4 (R111G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568761	NM_001164595.2(PDZRN4):c.341G>A (p.Ser114Asn)	PDZRN4 (S114N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263695	NM_001164595.2(PDZRN4):c.347G>C (p.Gly116Ala)	PDZRN4 (G116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211249	NM_001164595.2(PDZRN4):c.350G>C (p.Gly117Ala)	PDZRN4 (G117A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211250	NM_001164595.2(PDZRN4):c.394G>C (p.Gly132Arg)	PDZRN4 (G132R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357178	NM_001164595.2(PDZRN4):c.394G>A (p.Gly132Ser)	PDZRN4 (G132S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510290	NM_001164595.2(PDZRN4):c.404C>G (p.Pro135Arg)	PDZRN4 (P135R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336882	NM_001164595.2(PDZRN4):c.434C>A (p.Ala145Glu)	PDZRN4 (A145E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363944	NM_001164595.2(PDZRN4):c.460T>G (p.Trp154Gly)	PDZRN4 (W154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592996	NM_001164595.2(PDZRN4):c.559C>T (p.Leu187Phe)	PDZRN4 (L187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211251	NM_001164595.2(PDZRN4):c.616T>A (p.Phe206Ile)	PDZRN4 (F206I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368402	NM_001164595.2(PDZRN4):c.848A>G (p.Asn283Ser)	PDZRN4 (N25S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211254	NM_001164595.2(PDZRN4):c.907A>G (p.Lys303Glu)	PDZRN4 (K303E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319618	NM_001164595.2(PDZRN4):c.955C>A (p.Pro319Thr)	PDZRN4 (P319T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330539	NM_001164595.2(PDZRN4):c.1061C>T (p.Pro354Leu)	PDZRN4 (P354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205986	NM_001164595.2(PDZRN4):c.1121T>A (p.Met374Lys)	PDZRN4 (M116K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329425	NM_001164595.2(PDZRN4):c.1145A>G (p.Asn382Ser)	PDZRN4 (N124S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246571	NM_001164595.2(PDZRN4):c.1160G>T (p.Ser387Ile)	PDZRN4 (S387I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529804	NM_001164595.2(PDZRN4):c.1179C>G (p.Asp393Glu)	PDZRN4 (D135E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326159	NM_001164595.2(PDZRN4):c.1262G>A (p.Arg421Gln)	PDZRN4 (R163Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379304	NM_001164595.2(PDZRN4):c.1343G>A (p.Arg448Gln)	PDZRN4 (R448Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211230	NM_001164595.2(PDZRN4):c.1355G>A (p.Arg452Gln)	PDZRN4 (R194Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513824	NM_001164595.2(PDZRN4):c.1545T>A (p.His515Gln)	PDZRN4 (H257Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211231	NM_001164595.2(PDZRN4):c.1579G>A (p.Glu527Lys)	PDZRN4 (E527K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460317	NM_001164595.2(PDZRN4):c.1583A>G (p.Gln528Arg)	PDZRN4 (Q270R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211232	NM_001164595.2(PDZRN4):c.1600G>A (p.Glu534Lys)	PDZRN4 (E276K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211233	NM_001164595.2(PDZRN4):c.1613C>T (p.Thr538Ile)	PDZRN4 (T538I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312934	NM_001164595.2(PDZRN4):c.1679A>G (p.Glu560Gly)	PDZRN4 (E302G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274355	NM_001164595.2(PDZRN4):c.1688G>A (p.Arg563Gln)	PDZRN4 (R305Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235551	NM_001164595.2(PDZRN4):c.1726G>A (p.Asp576Asn)	PDZRN4 (D576N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211235	NM_001164595.2(PDZRN4):c.1804T>A (p.Tyr602Asn)	PDZRN4 (Y344N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211237	NM_001164595.2(PDZRN4):c.1857C>G (p.Asn619Lys)	PDZRN4 (N361K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349835	NM_001164595.2(PDZRN4):c.1864G>A (p.Glu622Lys)	PDZRN4 (E364K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211238	NM_001164595.2(PDZRN4):c.1871G>C (p.Cys624Ser)	PDZRN4 (C624S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563651	NM_001164595.2(PDZRN4):c.1927T>G (p.Tyr643Asp)	PDZRN4 (Y385D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211239	NM_001164595.2(PDZRN4):c.2017C>A (p.Leu673Met)	PDZRN4 (L415M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211240	NM_001164595.2(PDZRN4):c.2117G>A (p.Gly706Glu)	PDZRN4 (G448E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492759	NM_001164595.2(PDZRN4):c.2119T>A (p.Phe707Ile)	PDZRN4 (F449I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211241	NM_001164595.2(PDZRN4):c.2148G>A (p.Met716Ile)	PDZRN4 (M458I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380409	NM_001164595.2(PDZRN4):c.2183C>T (p.Pro728Leu)	PDZRN4 (P728L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211242	NM_001164595.2(PDZRN4):c.2369C>T (p.Ser790Leu)	PDZRN4 (S790L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365048	NM_001164595.2(PDZRN4):c.2428G>A (p.Val810Ile)	PDZRN4 (V552I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2404447	NM_001164595.2(PDZRN4):c.2434G>A (p.Glu812Lys)	PDZRN4 (E554K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235320	NM_001164595.2(PDZRN4):c.2455C>A (p.Gln819Lys)	PDZRN4 (Q819K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211243	NM_001164595.2(PDZRN4):c.2458G>A (p.Glu820Lys)	PDZRN4 (E820K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374814	NM_001164595.2(PDZRN4):c.2462A>G (p.Lys821Arg)	PDZRN4 (K563R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557770	NM_001164595.2(PDZRN4):c.2488C>T (p.Leu830Phe)	PDZRN4 (L830F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299225	NM_001164595.2(PDZRN4):c.2494C>G (p.Pro832Ala)	PDZRN4 (P574A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410243	NM_001164595.2(PDZRN4):c.2603G>A (p.Ser868Asn)	PDZRN4 (S868N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257707	NM_001164595.2(PDZRN4):c.2679T>G (p.Ile893Met)	PDZRN4 (I635M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211244	NM_001164595.2(PDZRN4):c.2686G>A (p.Asp896Asn)	PDZRN4 (D638N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295488	NM_001164595.2(PDZRN4):c.2834A>C (p.Glu945Ala)	PDZRN4 (E687A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211246	NM_001164595.2(PDZRN4):c.2936G>C (p.Ser979Thr)	PDZRN4 (S979T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348093	NM_001164595.2(PDZRN4):c.2948A>G (p.Lys983Arg)	PDZRN4 (K725R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536031	NM_001164595.2(PDZRN4):c.2978A>G (p.Lys993Arg)	PDZRN4 (K735R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327649	NM_001164595.2(PDZRN4):c.2983A>G (p.Met995Val)	PDZRN4 (M737V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281688	NM_001164595.2(PDZRN4):c.3007A>T (p.Ile1003Phe)	PDZRN4 (I745F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211247	NM_001164595.2(PDZRN4):c.3038T>G (p.Leu1013Arg)	PDZRN4 (L1013R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244471	NM_001164595.2(PDZRN4):c.3080A>C (p.His1027Pro)	PDZRN4 (H769P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979961	GRCh37/hg19 12q12(chr12:40678619-43945453)x4	PRICKLE1, GXYLT1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 815519	GRCh37/hg19 12q12(chr12:39580744-42470754)x3	CNTN1, ABCD2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 560125	Single allele	CNTN1, GXYLT1 +8 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 85