7728[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	SKA1, SKOR2 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	LOC130062661, LOC130062662 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC130062755, LOC130062756 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062777, LOC130062778 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062712, LOC130062713 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC110121390, LOC111365201 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	ADNP2, ALPK2 +573 more	Copy number loss	See cases	GPathogenic
Select item 663413	NC_000018.9:g.(?_55225777)_(56940458_?)dup	LOC130062577, LOC130062578 +87 more	Duplication	not provided	GUncertain significance
Select item 1243831	NC_000018.10:g.58044064C>A	LOC130062567, NEDD4L	Single nucleotide variant	not provided	GBenign
Select item 1199896	NC_000018.10:g.58044113G>A	LOC130062567, NEDD4L	Single nucleotide variant	not provided	GLikely benign
Select item 1296819	NC_000018.10:g.58044122G>C	LOC130062567, NEDD4L	Single nucleotide variant	not provided	GBenign
Select item 1251004	NM_001144967.3(NEDD4L):c.-275T>G	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1259629	NM_001144967.3(NEDD4L):c.-227C>T	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1250867	NM_001144967.3(NEDD4L):c.-46C>T	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1282456	NM_001144967.3(NEDD4L):c.-26C>T	LOC130062568, NEDD4L	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2756293	NM_001144967.3(NEDD4L):c.2T>C (p.Met1Thr)	LOC130062568, NEDD4L (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723747	NM_001144967.3(NEDD4L):c.6G>A (p.Ala2=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2269115	NM_001144967.3(NEDD4L):c.11G>T (p.Gly4Val)	LOC130062568, NEDD4L (G4V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 695592	NM_001144967.3(NEDD4L):c.13C>T (p.Leu5Phe)	LOC130062568, NEDD4L (L5F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1920939	NM_001144967.3(NEDD4L):c.15C>T (p.Leu5=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005851	NM_001144967.3(NEDD4L):c.21G>T (p.Glu7Asp)	LOC130062568, NEDD4L (E7D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1424223	NM_001144967.3(NEDD4L):c.22C>T (p.Pro8Ser)	LOC130062568, NEDD4L (P8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301721	NM_001144967.3(NEDD4L):c.23C>T (p.Pro8Leu)	LOC130062568, NEDD4L (P8L)	Single nucleotide variant (missense variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 2755459	NM_001144967.3(NEDD4L):c.24G>A (p.Pro8=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081930	NM_001144967.3(NEDD4L):c.27C>T (p.Val9=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 962046	NM_001144967.3(NEDD4L):c.29A>G (p.Tyr10Cys)	LOC130062568, NEDD4L (Y10C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084035	NM_001144967.3(NEDD4L):c.38C>G (p.Ser13Cys)	LOC130062568, NEDD4L (S13C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3014075	NM_001144967.3(NEDD4L):c.39C>T (p.Ser13=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968913	NM_001144967.3(NEDD4L):c.39C>G (p.Ser13=)	LOC130062568, NEDD4L	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862346	NM_001144967.3(NEDD4L):c.40G>A (p.Glu14Lys)	LOC130062568, NEDD4L (E14K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1079424	NM_001144967.3(NEDD4L):c.42A>G (p.Glu14=)	NEDD4L, LOC130062568	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838900	NM_001144967.3(NEDD4L):c.48+3G>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1499986	NM_001144967.3(NEDD4L):c.48+5G>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1468009	NM_001144967.3(NEDD4L):c.48+6T>C	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1137637	NM_001144967.3(NEDD4L):c.48+7G>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021579	NM_001144967.3(NEDD4L):c.48+11C>T	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1581459	NM_001144967.3(NEDD4L):c.48+11C>G	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2041752	NM_001144967.3(NEDD4L):c.48+14C>G	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1637451	NM_001144967.3(NEDD4L):c.48+14C>T	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely benign
Select item 1598162	NM_001144967.3(NEDD4L):c.48+14C>A	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1228499	NM_001144967.3(NEDD4L):c.48+28A>C	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252606	NM_001144967.3(NEDD4L):c.48+31C>T	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236323	NM_001144967.3(NEDD4L):c.48+81C>G	LOC130062568, NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272445	NM_001144967.3(NEDD4L):c.48+251G>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233056	NM_001144967.3(NEDD4L):c.48+263C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648758	NM_001144967.3(NEDD4L):c.48+46726_48+46730del	NEDD4L	Deletion (intron variant)	not provided	GBenign
Select item 1227489	NM_001144967.3(NEDD4L):c.49-16691G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222080	NM_001144967.3(NEDD4L):c.49-16583A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254331	NM_001144967.3(NEDD4L):c.49-16267A>G	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 225996	NM_001144967.3(NEDD4L):c.49-16229G>A	NEDD4L	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 2227563	NM_001144967.3(NEDD4L):c.49-16225_49-16215del	NEDD4L	Deletion (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1287421	NM_001144967.3(NEDD4L):c.49-16185C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223490	NM_001144967.3(NEDD4L):c.49-16047C>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1701658	NM_001144967.3(NEDD4L):c.49-3119A>G	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7	GUncertain significance
Select item 1229785	NM_001144967.3(NEDD4L):c.49-270A>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212980	NM_001144967.3(NEDD4L):c.49-203C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183484	NM_001144967.3(NEDD4L):c.49-124C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178852	NM_001144967.3(NEDD4L):c.49-54G>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010268	NM_001144967.3(NEDD4L):c.49-18T>C	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1452095	NM_001144967.3(NEDD4L):c.49-16G>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1580445	NM_001144967.3(NEDD4L):c.49-11_49-9del	NEDD4L	Deletion (intron variant)	not provided	GLikely benign
Select item 2110033	NM_001144967.3(NEDD4L):c.49-11C>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1569933	NM_001144967.3(NEDD4L):c.49-11C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1610362	NM_001144967.3(NEDD4L):c.49-8_49-6del	NEDD4L	Deletion (intron variant)	not provided	GLikely benign
Select item 696492	NM_001144967.3(NEDD4L):c.49-6T>C	NEDD4L	Single nucleotide variant (intron variant)	NEDD4L-related disorder +2 more	GBenign/Likely benign
Select item 1381856	NM_001144967.3(NEDD4L):c.49G>A (p.Gly17Arg)	NEDD4L (G9R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 839452	NM_001144967.3(NEDD4L):c.58C>T (p.Arg20Cys)	NEDD4L (R20C +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 963353	NM_001144967.3(NEDD4L):c.59G>A (p.Arg20His)	NEDD4L (R12H +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2002919	NM_001144967.3(NEDD4L):c.83C>T (p.Ser28Phe)	NEDD4L (S20F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1145674	NM_001144967.3(NEDD4L):c.96C>T (p.Leu32=)	NEDD4L	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 833864	NM_001144967.3(NEDD4L):c.97G>A (p.Ala33Thr)	NEDD4L (A33T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2097618	NM_001144967.3(NEDD4L):c.101A>G (p.Lys34Arg)	NEDD4L (K26R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045195	NM_001144967.3(NEDD4L):c.121A>G (p.Ser41Gly)	NEDD4L (S33G +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 699597	NM_001144967.3(NEDD4L):c.122+7T>A	NEDD4L	Single nucleotide variant (intron variant)	NEDD4L-related disorder +1 more	GLikely benign
Select item 417015	NM_001144967.3(NEDD4L):c.122+9G>C	NEDD4L	Single nucleotide variant (intron variant)	Periventricular nodular heterotopia 7 +1 more	GBenign/Likely benign
Select item 2086948	NM_001144967.3(NEDD4L):c.122+13T>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557383	NM_001144967.3(NEDD4L):c.122+15T>G	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950541	NM_001144967.3(NEDD4L):c.122+17T>A	NEDD4L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208830	NM_001144967.3(NEDD4L):c.122+154C>T	NEDD4L	Single nucleotide variant (intron variant)	not provided	GLikely benign

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