RTBDN[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60073	GRCh38/hg38 19p13.2-13.13(chr19:11517825-13225287)x1	ACP5, BEST2 +261 more	Copy number loss	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	LOC112543445, LOC112543446 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 60270	GRCh38/hg38 19p13.13(chr19:12813597-13119698)x3	CALR, DAND5 +67 more	Copy number gain	See cases	GUncertain significance
Select item 2456495	NM_001270441.2(RTBDN):c.629G>C (p.Arg210Pro)	RTBDN, LOC105372281 +1 more (R242P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282109	NM_001270441.2(RTBDN):c.566T>G (p.Val189Gly)	LOC105372281, LOC117125585 +1 more (V183G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156796	NM_001270441.2(RTBDN):c.509C>T (p.Ala170Val)	LOC105372281, LOC117125585 +1 more (A164V +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3156795	NM_001270441.2(RTBDN):c.475G>C (p.Gly159Arg)	LOC105372281, LOC117125585 +1 more (G153R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156794	NM_001270441.2(RTBDN):c.424A>G (p.Lys142Glu)	LOC105372281, RTBDN (K148E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2335961	NM_001270441.2(RTBDN):c.415C>T (p.Leu139Phe)	LOC105372281, RTBDN (L133F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315609	NM_001270441.2(RTBDN):c.401C>T (p.Pro134Leu)	LOC105372281, RTBDN (P134L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3156793	NM_001270441.2(RTBDN):c.401C>A (p.Pro134Gln)	LOC105372281, RTBDN (P166Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2246618	NM_001270441.2(RTBDN):c.386A>G (p.Asp129Gly)	LOC105372281, RTBDN (D129G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386910	NM_001270441.2(RTBDN):c.374A>G (p.Asn125Ser)	LOC105372281, RTBDN (N157S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156792	NM_001270441.2(RTBDN):c.353T>C (p.Leu118Pro)	LOC105372281, LOC130063669 +1 more (L118P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156791	NM_001270441.2(RTBDN):c.329A>G (p.Gln110Arg)	LOC105372281, RTBDN (Q116R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257873	NM_001270441.2(RTBDN):c.325C>T (p.Arg109Cys)	LOC105372281, RTBDN (R141C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609214	NM_001270441.2(RTBDN):c.310C>T (p.Arg104Trp)	LOC105372281, RTBDN (R136W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315607	NM_001270441.2(RTBDN):c.303C>G (p.Phe101Leu)	LOC105372281, RTBDN (F101L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216000	NM_001270441.2(RTBDN):c.287C>T (p.Ala96Val)	LOC105372281, RTBDN (A102V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546671	NM_001270441.2(RTBDN):c.271G>C (p.Glu91Gln)	LOC105372281, RTBDN (E97Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156790	NM_001270441.2(RTBDN):c.191T>G (p.Met64Arg)	LOC105372281, RTBDN (M64R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268866	NM_001270441.2(RTBDN):c.155A>T (p.Lys52Met)	LOC105372281, RTBDN (K52M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543177	NM_001270441.2(RTBDN):c.101T>A (p.Leu34His)	LOC105372281, RTBDN (L40H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250046	NM_001270441.2(RTBDN):c.95G>A (p.Arg32His)	LOC105372281, RTBDN (R32H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315608	NM_001270441.2(RTBDN):c.94C>T (p.Arg32Cys)	LOC105372281, RTBDN (R38C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768973	NM_001270441.2(RTBDN):c.57C>T (p.Thr19=)	LOC105372281, RTBDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3156789	NM_001270441.2(RTBDN):c.12G>T (p.Arg4Ser)	LOC105372281, RTBDN (R4S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294959	NM_031429.3(RTBDN):c.74T>C (p.Leu25Ser)	RTBDN (L25S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560011	NM_031429.3(RTBDN):c.31A>G (p.Thr11Ala)	RTBDN (T11A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248506	NC_000019.9:g.(?_12757434)_(13387962_?)dup	BEST2, CACNA1A +29 more	Duplication	Episodic ataxia type 2 +1 more	GUncertain significance
Select item 3248501	NC_000019.9:g.(?_12651855)_(13373667_?)del	BEST2, CACNA1A +32 more	Deletion	Episodic ataxia type 2 +1 more	GPathogenic
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2684885	GRCh37/hg19 19p13.2(chr19:12281048-13573342)x3	BEST2, CACNA1A +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 2425590	NC_000019.9:g.(?_12917488)_(13010355_?)dup	DNASE2, GCDH +5 more	Duplication	Aicardi-Goutieres syndrome 4	GUncertain significance
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1511662	NC_000019.9:g.(?_12917488)_(13205463_?)del	CALR, DAND5 +11 more	Deletion	not provided	GUncertain significance
Select item 1457169	NC_000019.9:g.(?_12757434)_(13617038_?)del	BEST2, CACNA1A +29 more	Deletion	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 685830	GRCh37/hg19 19p13.2(chr19:12354642-13424014)x1	BEST2, CACNA1A +38 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 395272	GRCh37/hg19 19p13.2(chr19:12204632-13497073)x1	BEST2, CACNA1A +41 more	Copy number loss	See cases	GPathogenic

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Items: 52