ClinVar for Gene (Select 26575) - ClinVar

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Links from Gene

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246023	NC_000006.11:g.(?_152949380)_(154441965_?)del	RGS17, SYNE1 +5 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 3153846	NM_012419.5(RGS17):c.439A>C (p.Lys147Gln)	RGS17 (K147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153845	NM_012419.5(RGS17):c.151A>G (p.Asn51Asp)	RGS17 (N51D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2684460	GRCh37/hg19 6q25.2(chr6:153440529-153688582)x3	RGS17	Copy number gain	not provided	GUncertain significance
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2589652	NM_012419.5(RGS17):c.538A>G (p.Thr180Ala)	RGS17 (T180A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2529917	NM_012419.5(RGS17):c.217C>T (p.Pro73Ser)	RGS17 (P73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345946	NM_012419.5(RGS17):c.259A>G (p.Lys87Glu)	RGS17 (K87E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312718	NM_012419.5(RGS17):c.37C>G (p.Pro13Ala)	RGS17 (P13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308810	NM_012419.5(RGS17):c.146G>C (p.Gly49Ala)	RGS17 (G49A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301510	NM_012419.5(RGS17):c.53C>T (p.Ala18Val)	RGS17 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527308	GRCh37/hg19 6q25.2-26(chr6:153207930-164322346)	ACAT2, AGPAT4 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527307	GRCh37/hg19 6q25.2-25.3(chr6:153180239-156377315)	CLDN20, CNKSR3 +9 more	Copy number loss	not specified	GUncertain significance
Select item 979577	GRCh37/hg19 6q25.1-25.2(chr6:151472860-154839846)x3	MTRF1L, AKAP12 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 814879	GRCh37/hg19 6q25.1-25.2(chr6:149431322-154120064)x1	AKAP12, ARMT1 +31 more	Copy number loss	not provided	GPathogenic
Select item 685788	GRCh37/hg19 6q24.3-25.3(chr6:148195086-160127254)x3	AKAP12, ARID1B +58 more	Copy number gain	not provided	GPathogenic
Select item 561258	46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn	FNDC1, FRMD1 +86 more	Complex	Coffin-Siris syndrome 1	GPathogenic
Select item 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	ESR1, FBXO5 +31 more	Deletion	Autosomal recessive ataxia, Beauce type +1 more	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 394997	GRCh37/hg19 6q25.1-27(chr6:151214792-170892243)x3	ACAT2, AFDN +87 more	Copy number gain	See cases	GPathogenic
Select item 254020	GRCh37/hg19 6q25.2(chr6:152702696-153345479)x4	SYNE1-AS1, FBXO5 +5 more	Copy number gain	See cases	GUncertain significance
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC129389692, LOC129389693 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 31