ClinVar for Gene (Select 29919) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154776	NM_013326.5(RMC1):c.689A>G (p.His230Arg)	LOC126862704, NPC1 +1 more (H230R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154775	NM_013326.5(RMC1):c.57G>T (p.Lys19Asn)	LOC130062286, RMC1 (K19N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3154774	NM_013326.5(RMC1):c.553G>T (p.Gly185Cys)	NPC1, RMC1 (G185C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154773	NM_013326.5(RMC1):c.542A>G (p.His181Arg)	NPC1, RMC1 (H133R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154772	NM_013326.5(RMC1):c.1451T>C (p.Met484Thr)	LOC126862705, NPC1 +1 more (M436T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154770	NM_013326.5(RMC1):c.1292C>T (p.Ala431Val)	NPC1, RMC1 (A274V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 2684871	GRCh37/hg19 18q11.2(chr18:20920907-21418343)x3	ANKRD29, LAMA3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2422760	NC_000018.9:g.(?_18963480)_(21534612_?)dup	ESCO1, ABHD3 +15 more	Duplication	Niemann-Pick disease, type C1	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	DLGAP1, DLGAP1-AS2 +174 more	Deletion	Intellectual disability	GPathogenic
Select item 891596	NM_000271.5(NPC1):c.*494G>T	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant)	Niemann-Pick disease, type C1	GUncertain significance
Select item 891595	NM_000271.5(NPC1):c.*718C>T	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance
Select item 816014	GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3	ACAA2, ANKRD29 +97 more	Copy number gain	not provided	GPathogenic
Select item 786337	NM_013326.5(RMC1):c.513G>A (p.Thr171=)	NPC1, RMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785906	NM_013326.5(RMC1):c.144T>G (p.Val48=)	RMC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 781357	NM_013326.5(RMC1):c.1500C>T (p.Tyr500=)	LOC126862705, NPC1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778149	NM_013326.5(RMC1):c.1230C>G (p.Ala410=)	NPC1, RMC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734642	NM_013326.5(RMC1):c.653+9G>A	NPC1, RMC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 730421	NM_013326.5(RMC1):c.1098A>C (p.Ile366=)	RMC1, NPC1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708242	NM_013326.5(RMC1):c.65C>A (p.Pro22His)	LOC130062286, RMC1 (P22H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 564547	GRCh37/hg19 18q11.2(chr18:20803607-24109364)x1	HRH4, ZNF521 +15 more	Copy number loss	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443062	GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1	ANKRD29, AQP4 +56 more	Copy number loss	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 326240	NM_000271.5(NPC1):c.*485dup	NPC1, RMC1	Duplication (3 prime UTR variant)	Niemann-Pick disease, type C	GUncertain significance
Select item 326239	NM_000271.5(NPC1):c.*500A>G	NPC1, RMC1	Single nucleotide variant (3 prime UTR variant +1 more)	Niemann-Pick disease, type C1	GUncertain significance
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 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 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 153056	GRCh38/hg38 18q11.2(chr18:23477183-23753724)x1	ANKRD29, LAMA3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 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 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 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 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 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 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 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

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Links from Gene

Items: 54