ClinVar for Gene (Select 348938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364733	NM_001099287.2(NIPAL4):c.-101C>A	LOC129995124, NIPAL4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3299802	NM_001099287.2(NIPAL4):c.743C>T (p.Thr248Ile)	NIPAL4 (T229I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299801	NM_001099287.1(NIPAL4):c.71A>T (p.Asp24Val)	LOC129995124, NIPAL4 (D24V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299800	NM_001099287.2(NIPAL4):c.850A>G (p.Arg284Gly)	NIPAL4 (R265G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299799	NM_001099287.2(NIPAL4):c.661C>A (p.Gln221Lys)	NIPAL4 (Q202K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299797	NM_001099287.1(NIPAL4):c.14C>A (p.Ser5Tyr)	LOC129995124, NIPAL4 (S5Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299796	NM_001099287.2(NIPAL4):c.663A>C (p.Gln221His)	NIPAL4 (Q202H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299795	NM_001099287.2(NIPAL4):c.563T>C (p.Met188Thr)	NIPAL4 (M188T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299794	NM_001099287.2(NIPAL4):c.248G>A (p.Arg83Gln)	NIPAL4 (R83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251477	NM_001099287.2(NIPAL4):c.277+4G>C	NIPAL4	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3233539	NM_001099287.2(NIPAL4):c.207C>A (p.Leu69=)	NIPAL4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3220883	NM_001099287.2(NIPAL4):c.834G>T (p.Gln278His)	NIPAL4 (Q278H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GLikely pathogenic
Select item 3200167	NM_001099287.2(NIPAL4):c.458G>A (p.Ser153Asn)	NIPAL4 (S134N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200166	NM_001099287.1(NIPAL4):c.59C>A (p.Pro20His)	LOC129995124, NIPAL4 (P20H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200165	NM_001099287.2(NIPAL4):c.350T>C (p.Val117Ala)	NIPAL4 (V117A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200164	NM_001099287.2(NIPAL4):c.257C>A (p.Ala86Asp)	NIPAL4 (A86D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200163	NM_001099287.2(NIPAL4):c.201C>A (p.Ser67Arg)	NIPAL4 (S67R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200162	NM_001099287.2(NIPAL4):c.154C>G (p.Gln52Glu)	NIPAL4 (Q52E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200160	NM_001099287.2(NIPAL4):c.109G>A (p.Val37Met)	NIPAL4 (V37M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200159	NM_001099287.2(NIPAL4):c.-21G>A	NIPAL4	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 3200158	NM_001099287.2(NIPAL4):c.1015G>A (p.Val339Met)	NIPAL4 (V320M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2904122	NM_001099287.2(NIPAL4):c.96C>A (p.Asp32Glu)	NIPAL4 (D32E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884544	NM_001099287.2(NIPAL4):c.897C>T (p.Tyr299=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2763581	NC_000005.10:g.157460209C>T	LOC129995124, NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2705843	NM_001099287.2(NIPAL4):c.702C>G (p.Ile234Met)	NIPAL4 (I234M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2693241	NM_001099287.2(NIPAL4):c.139C>T (p.Gln47Ter)	NIPAL4 (Q47*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2663217	NM_001099287.2(NIPAL4):c.479T>A (p.Leu160Gln)	NIPAL4 (L141Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655998	NM_001099287.2(NIPAL4):c.967G>A (p.Val323Met)	NIPAL4 (V304M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2624350	NM_001099287.2(NIPAL4):c.11G>C (p.Arg4Pro)	NIPAL4 (R4P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527568	NM_001099287.2(NIPAL4):c.-93A>C	LOC129995124, NIPAL4	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2515493	NM_001099287.1(NIPAL4):c.58C>T (p.Pro20Ser)	LOC129995124, NIPAL4 (P20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506247	NM_001099287.2(NIPAL4):c.11G>A (p.Arg4Gln)	NIPAL4 (R4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477531	NM_001099287.2(NIPAL4):c.998T>C (p.Val333Ala)	NIPAL4 (V314A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425365	NC_000005.9:g.(?_155338082)_(156899968_?)dup	CYFIP2, FNDC9 +8 more	Duplication	Lymphoproliferative syndrome 1	GUncertain significance
Select item 2425364	NC_000005.9:g.(?_155338082)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	Lymphoproliferative syndrome 1	GPathogenic
Select item 2423698	NC_000005.9:g.(?_156887143)_(156899968_?)del	NIPAL4	Deletion	not provided	GPathogenic
Select item 2402887	NM_001099287.2(NIPAL4):c.779G>A (p.Arg260Gln)	NIPAL4 (R241Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2379936	NM_001099287.2(NIPAL4):c.584C>T (p.Thr195Ile)	NIPAL4 (T195I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2377450	NM_001099287.2(NIPAL4):c.117C>A (p.Ser39Arg)	NIPAL4 (S101R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2368699	NM_001099287.2(NIPAL4):c.778C>T (p.Arg260Trp)	NIPAL4 (R260W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356773	NM_001099287.2(NIPAL4):c.97C>T (p.Leu33Phe)	NIPAL4 (L95F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303704	NM_001099287.2(NIPAL4):c.433C>T (p.Leu145Phe)	NIPAL4 (L145F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297804	NM_001099287.2(NIPAL4):c.584C>A (p.Thr195Lys)	NIPAL4 (T195K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285750	NM_001099287.2(NIPAL4):c.965C>T (p.Ala322Val)	NIPAL4 (A322V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235706	NM_001099287.2(NIPAL4):c.1021A>C (p.Met341Leu)	NIPAL4 (M322L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2180937	NM_001099287.2(NIPAL4):c.1056C>T (p.Cys352=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994482	NM_001099287.2(NIPAL4):c.851G>C (p.Arg284Thr)	NIPAL4 (R265T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994481	NM_001099287.2(NIPAL4):c.421del (p.Leu140_Ile141insTer)	NIPAL4	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1879644	GRCh37/hg19 5q33.3-34(chr5:156786013-162945369)x1	PTTG1, UBLCP1 +29 more	Copy number loss	not provided	GLikely pathogenic
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1807669	GRCh37/hg19 5q33.3(chr5:156486127-156930814)x3	ADAM19, CYFIP2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1804711	NM_001099287.2(NIPAL4):c.587-2A>G	NIPAL4	Single nucleotide variant (splice acceptor variant)	Lamellar ichthyosis	GLikely pathogenic
Select item 1723811	NM_001099287.2(NIPAL4):c.224T>C (p.Ile75Thr)	NIPAL4 (I137T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723665	NM_001099287.2(NIPAL4):c.1050C>G (p.Ile350Met)	NIPAL4 (I331M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722366	NM_001099287.2(NIPAL4):c.4G>T (p.Glu2Ter)	NIPAL4 (E2* +1 more)	Single nucleotide variant (nonsense)	Lamellar ichthyosis	GLikely pathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 1696167	NM_001099287.2(NIPAL4):c.890T>C (p.Ile297Thr)	NIPAL4 (I297T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1683528	NM_001099287.2(NIPAL4):c.859G>C (p.Asp287His)	NIPAL4 (D287H +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 1669807	NM_001099287.2(NIPAL4):c.-59C>T	LOC129995124, NIPAL4 (P43L)	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1650386	NM_001099287.2(NIPAL4):c.1101C>T (p.Ala367=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481597	NC_000005.9:g.(?_155935591)_(156899968_?)del	CYFIP2, FNDC9 +8 more	Deletion	not provided	GUncertain significance
Select item 1445008	NM_001099287.2(NIPAL4):c.318G>A (p.Trp106Ter)	NIPAL4 (W106*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1339784	GRCh37/hg19 5q33.3-34(chr5:155970607-162450579)x1	ADAM19, ADRA1B +33 more	Copy number loss	not provided	Gnot provided
Select item 1331474	NM_001099287.2(NIPAL4):c.-103_-99delinsT	LOC129995124, NIPAL4 (S29fs)	Indel (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1315013	NM_001099287.2(NIPAL4):c.1003A>G (p.Ile335Val)	NIPAL4 (I335V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307671	NM_001099287.2(NIPAL4):c.-80A>G	LOC129995124, NIPAL4 (D36G)	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1286577	NM_001099287.2(NIPAL4):c.37+108G>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276105	NM_001099287.2(NIPAL4):c.37+24C>G	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276066	NC_000005.10:g.157459690C>T	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
Select item 1267802	NC_000005.10:g.157459885C>T	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
Select item 1259213	NM_001099287.2(NIPAL4):c.425+281T>C	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250778	NM_001099287.2(NIPAL4):c.587-50T>C	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247263	NM_001099287.2(NIPAL4):c.587-167A>C	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244001	NM_001099287.2(NIPAL4):c.334+230C>G	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243354	NM_001099287.2(NIPAL4):c.586+142G>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228213	NC_000005.10:g.157459842A>G	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
Select item 1222176	NC_000005.10:g.157459811G>C	NIPAL4, NIPAL4-DT	Single nucleotide variant	not provided	GBenign
Select item 1182087	NM_001099287.2(NIPAL4):c.586+49C>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181763	NM_001099287.2(NIPAL4):c.453G>A (p.Arg151=)	NIPAL4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1181514	NM_001099287.2(NIPAL4):c.586+74G>A	NIPAL4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175309	NM_001099287.2(NIPAL4):c.649C>G (p.Pro217Ala)	NIPAL4 (P217A +3 more)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1	GLikely pathogenic
Select item 1031827	NM_001099287.2(NIPAL4):c.1057G>T (p.Ala353Ser)	NIPAL4 (A353S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907384	NM_001099287.2(NIPAL4):c.*1208T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907383	NM_001099287.2(NIPAL4):c.*1130C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907321	NM_001099287.2(NIPAL4):c.657C>T (p.Tyr219=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 907320	NM_001099287.2(NIPAL4):c.501C>G (p.Ala167=)	NIPAL4	Single nucleotide variant (synonymous variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 906380	NM_001099287.2(NIPAL4):c.*804T>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GBenign
Select item 906379	NM_001099287.2(NIPAL4):c.*730C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 906378	NM_001099287.2(NIPAL4):c.*623T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GLikely benign
Select item 906377	NM_001099287.2(NIPAL4):c.*576G>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 906310	NM_001099287.2(NIPAL4):c.293G>T (p.Gly98Val)	NIPAL4 (G160V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905870	NM_001099287.2(NIPAL4):c.*445T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905869	NM_001099287.2(NIPAL4):c.*290G>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905868	NM_001099287.2(NIPAL4):c.*228C>G	NIPAL4	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 905867	NM_001099287.2(NIPAL4):c.*135T>C	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905866	NM_001099287.2(NIPAL4):c.*97A>G	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 905799	NM_001099287.2(NIPAL4):c.253G>A (p.Val85Met)	NIPAL4 (V147M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 905798	NM_001099287.2(NIPAL4):c.-71G>A	LOC129995124, NIPAL4 (R39Q)	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 904051	NM_001099287.2(NIPAL4):c.*1492C>T	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance
Select item 904050	NM_001099287.2(NIPAL4):c.*1347T>A	NIPAL4	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive congenital ichthyosis 6	GUncertain significance

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