1763[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066240, LOC130066241 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	ABHD16B, ADRM1 +491 more	Copy number gain	See cases	GPathogenic
Select item 152840	GRCh38/hg38 20q13.31-13.33(chr20:57229415-64273089)x3	LOC130066376, LOC130066377 +464 more	Copy number gain	See cases	GPathogenic
Select item 146530	GRCh38/hg38 20q13.32-13.33(chr20:59041966-64277321)x3	ABHD16B, ADRM1 +355 more	Copy number gain	See cases	GPathogenic
Select item 2652460	NM_001794.5(CDH4):c.57+4A>G	CDH4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2313137	NM_001794.5(CDH4):c.69G>T (p.Glu23Asp)	CDH4 (E23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235574	NM_001794.5(CDH4):c.77C>T (p.Thr26Ile)	CDH4 (T26I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775438	NM_001794.5(CDH4):c.80C>T (p.Thr27Ile)	CDH4 (T27I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2486777	NM_001794.5(CDH4):c.89C>A (p.Thr30Asn)	CDH4 (T30N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769098	NM_001794.5(CDH4):c.97G>A (p.Ala33Thr)	CDH4 (A33T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3141268	NM_001794.5(CDH4):c.116A>G (p.Asp39Gly)	CDH4 (D39G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357787	NM_001794.5(CDH4):c.122C>T (p.Thr41Met)	CDH4 (T41M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 148745	GRCh38/hg38 20q13.33(chr20:61262566-61742628)x1	CDH4, LOC100128310 +6 more	Copy number loss	See cases	GUncertain significance
Select item 149223	GRCh38/hg38 20q13.33(chr20:61326548-61935972)x3	CDH4, LOC100128310 +9 more	Copy number gain	See cases	GUncertain significance
Select item 150212	GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3	ABHD16B, ADRM1 +312 more	Copy number gain	See cases	GPathogenic
Select item 1696647	NM_001794.5(CDH4):c.169+234620C>T	CDH4	Single nucleotide variant (intron variant)	CDH4-associated disorder of corticaldevelopment	GUncertain significance
Select item 3046991	NM_001794.5(CDH4):c.170-244081C>T	CDH4	Single nucleotide variant (synonymous variant +1 more)	CDH4-related disorder	GLikely benign
Select item 3039775	NM_001794.5(CDH4):c.170-244074G>T	CDH4 (E19*)	Single nucleotide variant (nonsense +1 more)	CDH4-related disorder	GLikely benign
Select item 148773	GRCh38/hg38 20q13.33(chr20:61588953-62241744)x3	CDH4, HRH3 +30 more	Copy number gain	See cases	GUncertain significance
Select item 3052681	NM_001794.5(CDH4):c.285C>T (p.Ser95=)	CDH4	Single nucleotide variant (synonymous variant)	CDH4-related disorder	GLikely benign
Select item 2326488	NM_001794.5(CDH4):c.331G>A (p.Glu111Lys)	CDH4 (E111K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141282	NM_001794.5(CDH4):c.343G>A (p.Ala115Thr)	CDH4 (A115T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515209	NM_001794.5(CDH4):c.346G>A (p.Val116Met)	CDH4 (V79M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141283	NM_001794.5(CDH4):c.353G>A (p.Arg118Gln)	CDH4 (R81Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141284	NM_001794.5(CDH4):c.376T>A (p.Ser126Thr)	CDH4 (S52T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141285	NM_001794.5(CDH4):c.416T>A (p.Val139Asp)	CDH4 (V139D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613947	NM_001794.5(CDH4):c.419T>G (p.Val140Gly)	CDH4 (V140G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238689	NM_001794.5(CDH4):c.430C>G (p.Pro144Ala)	CDH4 (P70A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313582	NM_001794.5(CDH4):c.452C>T (p.Thr151Ile)	CDH4 (T114I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302819	NM_001794.5(CDH4):c.467C>G (p.Pro156Arg)	CDH4 (P119R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1707464	Single allele	ADRM1, ARFGAP1 +198 more	Duplication	not specified	GUncertain significance
Select item 751029	NM_001794.5(CDH4):c.780C>T (p.Pro260=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591657	NM_001794.5(CDH4):c.799G>A (p.Val267Ile)	CDH4 (V193I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771937	NM_001794.5(CDH4):c.849C>T (p.Asn283=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141286	NM_001794.5(CDH4):c.850G>A (p.Gly284Ser)	CDH4 (G210S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482367	NM_001794.5(CDH4):c.893C>T (p.Thr298Ile)	CDH4 (T224I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336381	NM_001794.5(CDH4):c.893C>A (p.Thr298Asn)	CDH4 (T261N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301277	NM_001794.5(CDH4):c.898A>G (p.Thr300Ala)	CDH4 (T226A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617736	NM_001794.5(CDH4):c.899C>T (p.Thr300Met)	CDH4 (T263M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141287	NM_001794.5(CDH4):c.956T>C (p.Val319Ala)	CDH4 (V319A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726658	NM_001794.5(CDH4):c.1032G>A (p.Ala344=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2348626	NM_001794.5(CDH4):c.1082C>G (p.Ala361Gly)	CDH4 (A324G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240959	NM_001794.5(CDH4):c.1142C>T (p.Thr381Met)	CDH4 (T307M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053924	NM_001794.5(CDH4):c.1153G>A (p.Val385Met)	CDH4 (V311M +2 more)	Single nucleotide variant (missense variant)	CDH4-related disorder	GLikely benign
Select item 2535521	NM_001794.5(CDH4):c.1166C>T (p.Pro389Leu)	CDH4 (P352L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635801	NM_001794.5(CDH4):c.1187C>T (p.Thr396Met)	CDH4 (T322M +2 more)	Single nucleotide variant (missense variant)	CDH4-related disorder	GUncertain significance
Select item 3043842	NM_001794.5(CDH4):c.1188+7C>A	CDH4	Single nucleotide variant (intron variant)	CDH4-related disorder	GLikely benign
Select item 3034780	NM_001794.5(CDH4):c.1189-9A>G	CDH4	Single nucleotide variant (intron variant)	CDH4-related disorder	GLikely benign
Select item 2259620	NM_001794.5(CDH4):c.1213C>T (p.Arg405Cys)	CDH4 (R331C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047341	NM_001794.5(CDH4):c.1215C>T (p.Arg405=)	CDH4	Single nucleotide variant (synonymous variant)	CDH4-related disorder	GLikely benign
Select item 2489954	NM_001794.5(CDH4):c.1235A>G (p.Asn412Ser)	CDH4 (N375S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141269	NM_001794.5(CDH4):c.1241C>T (p.Thr414Met)	CDH4 (T377M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039416	NM_001794.5(CDH4):c.1242G>A (p.Thr414=)	CDH4	Single nucleotide variant (synonymous variant)	CDH4-related disorder	GBenign
Select item 2355701	NM_001794.5(CDH4):c.1253G>A (p.Arg418Gln)	CDH4 (R344Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531834	NM_001794.5(CDH4):c.1294A>G (p.Ile432Val)	CDH4 (I432V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568627	NM_001794.5(CDH4):c.1327G>A (p.Val443Ile)	CDH4 (V443I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3141270	NM_001794.5(CDH4):c.1330C>T (p.Arg444Cys)	CDH4 (R370C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711082	NM_001794.5(CDH4):c.1350C>T (p.Asn450=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 438596	NM_001794.5(CDH4):c.1351G>A (p.Glu451Lys)	CDH4 (E451K +2 more)	Single nucleotide variant (missense variant)	Simplified gyral pattern	GUncertain significance
Select item 2598454	NM_001794.5(CDH4):c.1385A>G (p.Tyr462Cys)	CDH4 (Y462C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372994	NM_001794.5(CDH4):c.1430A>G (p.Gln477Arg)	CDH4 (Q403R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141271	NM_001794.5(CDH4):c.1433C>T (p.Ala478Val)	CDH4 (A404V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652461	NM_001794.5(CDH4):c.1473G>A (p.Thr491=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2404802	NM_001794.5(CDH4):c.1567G>A (p.Gly523Ser)	CDH4 (G523S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141272	NM_001794.5(CDH4):c.1583C>T (p.Thr528Met)	CDH4 (T454M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778897	NM_001794.5(CDH4):c.1629-8C>T	CDH4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2234363	NM_001794.5(CDH4):c.1636A>G (p.Lys546Glu)	CDH4 (K546E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042977	NM_001794.5(CDH4):c.1653G>A (p.Ala551=)	CDH4	Single nucleotide variant (synonymous variant)	CDH4-related disorder	GBenign
Select item 3141273	NM_001794.5(CDH4):c.1673C>T (p.Ala558Val)	CDH4 (A521V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342362	NM_001794.5(CDH4):c.1694C>T (p.Thr565Met)	CDH4 (T528M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636013	NM_001794.5(CDH4):c.1738G>A (p.Val580Ile)	CDH4 (V506I +2 more)	Single nucleotide variant (missense variant)	CDH4-related disorder	GUncertain significance
Select item 2395703	NM_001794.5(CDH4):c.1747G>T (p.Ala583Ser)	CDH4 (A509S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046867	NM_001794.5(CDH4):c.1782G>A (p.Pro594=)	CDH4	Single nucleotide variant (synonymous variant)	CDH4-related disorder	GLikely benign
Select item 3141274	NM_001794.5(CDH4):c.1787G>C (p.Ser596Thr)	CDH4 (S522T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341780	NM_001794.5(CDH4):c.1835C>T (p.Ala612Val)	CDH4 (A538V +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2489693	NM_001794.5(CDH4):c.1852A>G (p.Lys618Glu)	CDH4 (K544E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477751	NM_001794.5(CDH4):c.1854G>C (p.Lys618Asn)	CDH4 (K618N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060356	NM_001794.5(CDH4):c.1874A>G (p.Lys625Arg)	CDH4 (K551R +2 more)	Single nucleotide variant (missense variant)	CDH4-related disorder	GBenign
Select item 2555478	NM_001794.5(CDH4):c.1876C>A (p.Pro626Thr)	CDH4 (P626T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537166	NM_001794.5(CDH4):c.1904C>T (p.Ala635Val)	CDH4 (A598V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356011	NM_001794.5(CDH4):c.1942G>A (p.Val648Ile)	CDH4 (V574I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060498	NM_001794.5(CDH4):c.1965G>A (p.Pro655=)	CDH4	Single nucleotide variant (synonymous variant)	CDH4-related disorder	GBenign
Select item 2204270	NM_001794.5(CDH4):c.1967C>A (p.Ala656Glu)	CDH4 (A619E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141275	NM_001794.5(CDH4):c.1975C>T (p.Arg659Trp)	CDH4 (R585W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402151	NM_001794.5(CDH4):c.1976G>C (p.Arg659Pro)	CDH4 (R659P +2 more)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 3141276	NM_001794.5(CDH4):c.1996C>T (p.Arg666Cys)	CDH4 (R666C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716617	NM_001794.5(CDH4):c.2001G>C (p.Leu667=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2260594	NM_001794.5(CDH4):c.2024G>A (p.Ser675Asn)	CDH4 (S675N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034112	NM_001794.5(CDH4):c.2061C>T (p.Asp687=)	CDH4	Single nucleotide variant (synonymous variant)	CDH4-related disorder	GLikely benign
Select item 2527207	NM_001794.5(CDH4):c.2066C>G (p.Pro689Arg)	CDH4 (P615R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777603	NM_001794.5(CDH4):c.2073C>T (p.Ile691=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2401544	NM_001794.5(CDH4):c.2074G>A (p.Val692Ile)	CDH4 (V655I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265111	NM_001794.5(CDH4):c.2150G>A (p.Gly717Glu)	CDH4 (G643E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652462	NM_001794.5(CDH4):c.2169C>T (p.Gly723=)	CDH4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141277	NM_001794.5(CDH4):c.2197G>A (p.Gly733Ser)	CDH4 (G659S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631793	NM_001794.5(CDH4):c.2212A>C (p.Ile738Leu)	CDH4 (I664L +2 more)	Single nucleotide variant (missense variant)	CDH4-related disorder	GUncertain significance
Select item 781501	NM_001794.5(CDH4):c.2240-4A>G	CDH4	Single nucleotide variant (intron variant)	not provided	GBenign

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