ClinVar for Gene (Select 154007) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3167034	NM_152551.4(SNRNP48):c.872A>G (p.Glu291Gly)	SNRNP48 (E291G)	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 3167032	NM_152551.4(SNRNP48):c.725G>A (p.Arg242Gln)	SNRNP48 (R242Q)	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 3167030	NM_152551.4(SNRNP48):c.416C>A (p.Ser139Tyr)	SNRNP48 (S139Y)	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 3167028	NM_152551.4(SNRNP48):c.250G>T (p.Gly84Cys)	SNRNP48 (G84C)	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 2614287	NM_152551.4(SNRNP48):c.12G>C (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 2590033	NM_152551.4(SNRNP48):c.12G>T (p.Glu4Asp)	SNRNP48 (E4D)	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 2508043	NM_152551.4(SNRNP48):c.502G>A (p.Val168Ile)	SNRNP48 (V168I)	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 2473905	NM_152551.4(SNRNP48):c.169A>G (p.Ile57Val)	SNRNP48 (I57V)	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 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 2410838	NM_152551.4(SNRNP48):c.974A>T (p.Asp325Val)	SNRNP48 (D325V)	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 2289523	NM_152551.4(SNRNP48):c.937G>T (p.Asp313Tyr)	SNRNP48 (D313Y)	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 2223054	NM_152551.4(SNRNP48):c.82A>G (p.Thr28Ala)	SNRNP48 (T28A)	Single nucleotide variant (missense variant)	not specified	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
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +610 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995745, LOC129995746 +557 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	LOC110121220, LOC110121246 +2579 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995555, LOC129995556 +641 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 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	LOC132090751, LOC132090752 +508 more	Copy number gain	See cases	GLikely pathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	LOC129995829, LOC129995830 +777 more	Copy number gain	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 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	LOC132089486, LOC132089487 +435 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 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	SERPINB9-AS1, SLC22A23 +571 more	Copy number gain	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 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	BLOC1S5, BLOC1S5-TXNDC5 +431 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 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +823 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 56