12693[HGNC] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	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
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	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 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 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1, SYNE1-AS1 +31 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
Select item 154821	GRCh38/hg38 6q25.2(chr6:152376315-152902773)x3	LINC02840, LOC126859838 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 1098679	NM_003381.4(VIP):c.49A>T (p.Ser17Cys)	VIP (S17C)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2540072	NM_003381.4(VIP):c.60C>G (p.Phe20Leu)	VIP (F20L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209362	NM_003381.4(VIP):c.73G>C (p.Ala25Pro)	VIP (A25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278222	NM_003381.4(VIP):c.182T>C (p.Leu61Ser)	VIP (L61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188563	NM_003381.4(VIP):c.203A>G (p.Asn68Ser)	VIP (N68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709425	NM_003381.4(VIP):c.230+6T>A	VIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710847	NM_003381.4(VIP):c.231-7G>A	LINC02840, VIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3188564	NM_003381.4(VIP):c.254T>A (p.Val85Asp)	LINC02840, VIP (V85D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3332067	NM_003381.4(VIP):c.271A>G (p.Ser91Gly)	LINC02840, VIP (S91G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2229018	NM_003381.4(VIP):c.311A>G (p.Glu104Gly)	LINC02840, VIP (E104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553809	NM_003381.4(VIP):c.331G>A (p.Val111Ile)	LINC02840, VIP (V111I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2282814	NM_003381.4(VIP):c.337A>T (p.Ser113Cys)	LINC02840, VIP (S113C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 722061	NM_003381.4(VIP):c.342C>T (p.Asn114=)	LINC02840, VIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776175	NM_003381.4(VIP):c.384A>C (p.Ala128=)	LINC02840, VIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 796601	NM_003381.4(VIP):c.396C>T (p.Asp132=)	LINC02840, VIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188565	NM_003381.4(VIP):c.398A>G (p.Asn133Ser)	LINC02840, VIP (N132S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 774186	NM_003381.4(VIP):c.399C>T (p.Asn133=)	LINC02840, VIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3332066	NM_003381.4(VIP):c.441G>C (p.Leu147Phe)	LINC02840, VIP (L146F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3188567	NM_003381.4(VIP):c.448A>T (p.Ile150Phe)	LINC02840, VIP (I149F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527381	NM_003381.4(VIP):c.457G>A (p.Gly153Arg)	LINC02840, VIP (G153R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2224416	NM_003381.4(VIP):c.469A>C (p.Ser157Arg)	LINC02840, VIP (S156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365518	NM_003381.4(VIP):c.485C>T (p.Pro162Leu)	LINC02840, VIP (P161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246023	NC_000006.11:g.(?_152949380)_(154441965_?)del	MTRF1L, FBXO5 +5 more	Deletion	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more	GPathogenic
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 1527306	GRCh37/hg19 6q25.2(chr6:152683412-153236408)	MYCT1, SYNE1 +2 more	Copy number gain	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 814882	GRCh37/hg19 6q25.2(chr6:152681951-153241273)x3	SYNE1, MYCT1 +2 more	Copy number gain	not provided	GUncertain significance
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 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

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Items: 45