SNRNP48[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +824 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995709, LOC129995710 +642 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +778 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +611 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LINC01622, LINC02521 +558 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC129995671, LOC129995672 +509 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC129995581, LOC129995582 +436 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	ADTRP, BLOC1S5 +572 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +432 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	LOC126859578, LOC126859579 +536 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 2614287	NM_152551.4(SNRNP48):c.12G>C (p.Glu4Asp)	SNRNP48 (E4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590033	NM_152551.4(SNRNP48):c.12G>T (p.Glu4Asp)	SNRNP48 (E4D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599407	NM_152551.4(SNRNP48):c.40C>A (p.Leu14Met)	SNRNP48 (L14M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223054	NM_152551.4(SNRNP48):c.82A>G (p.Thr28Ala)	SNRNP48 (T28A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378885	NM_152551.4(SNRNP48):c.161A>G (p.Glu54Gly)	SNRNP48 (E54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473905	NM_152551.4(SNRNP48):c.169A>G (p.Ile57Val)	SNRNP48 (I57V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235805	NM_152551.4(SNRNP48):c.172T>C (p.Cys58Arg)	SNRNP48 (C58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167028	NM_152551.4(SNRNP48):c.250G>T (p.Gly84Cys)	SNRNP48 (G84C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167029	NM_152551.4(SNRNP48):c.279G>T (p.Met93Ile)	SNRNP48 (M93I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475736	NM_152551.4(SNRNP48):c.329T>C (p.Leu110Ser)	SNRNP48 (L110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167030	NM_152551.4(SNRNP48):c.416C>A (p.Ser139Tyr)	SNRNP48 (S139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508043	NM_152551.4(SNRNP48):c.502G>A (p.Val168Ile)	SNRNP48 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167031	NM_152551.4(SNRNP48):c.515C>G (p.Thr172Arg)	SNRNP48 (T172R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167032	NM_152551.4(SNRNP48):c.725G>A (p.Arg242Gln)	SNRNP48 (R242Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456373	NM_152551.4(SNRNP48):c.752A>T (p.Glu251Val)	SNRNP48 (E251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167033	NM_152551.4(SNRNP48):c.785A>G (p.Lys262Arg)	SNRNP48 (K262R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167034	NM_152551.4(SNRNP48):c.872A>G (p.Glu291Gly)	SNRNP48 (E291G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552542	NM_152551.4(SNRNP48):c.881G>A (p.Arg294Gln)	SNRNP48 (R294Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167035	NM_152551.4(SNRNP48):c.889A>G (p.Arg297Gly)	SNRNP48 (R297G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289523	NM_152551.4(SNRNP48):c.937G>T (p.Asp313Tyr)	SNRNP48 (D313Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410838	NM_152551.4(SNRNP48):c.974A>T (p.Asp325Val)	SNRNP48 (D325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2425105	NC_000006.11:g.(?_7542149)_(7880576_?)dup	BMP6, DSP +1 more	Duplication	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 980201	GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3	BLOC1S5, BMP6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814785	GRCh37/hg19 6p25.1-24.3(chr6:6664656-7593975)x3	CAGE1, DSP +4 more	Copy number gain	not provided	GUncertain significance
Select item 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 688482	GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3	BMP6, CAGE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441632	GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3	BMP6, CAGE1 +5 more	Copy number gain	See cases	GLikely benign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 56