9298[HGNC] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 546800	NM_032595.5(PPP1R9B):c.2380A>C (p.Met794Leu)	PPP1R9B (M794L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 98480	NM_032595.5(PPP1R9B):c.2358G>A (p.Ser786=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2647891	NM_032595.5(PPP1R9B):c.2346T>G (p.Val782=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3037007	NM_032595.5(PPP1R9B):c.2254G>A (p.Glu752Lys)	PPP1R9B (E752K)	Single nucleotide variant (missense variant)	PPP1R9B-related disorder	GUncertain significance
Select item 98481	NM_032595.5(PPP1R9B):c.2238G>A (p.Ala746=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98482	NM_032595.5(PPP1R9B):c.2199G>T (p.Leu733=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98483	NM_032595.5(PPP1R9B):c.1916C>T (p.Pro639Leu)	PPP1R9B (P639L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3036729	NM_032595.5(PPP1R9B):c.1751G>A (p.Arg584Gln)	PPP1R9B (R584Q)	Single nucleotide variant (missense variant)	PPP1R9B-related disorder	GLikely benign
Select item 788607	NM_032595.5(PPP1R9B):c.1644C>A (p.Leu548=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 715697	NM_032595.5(PPP1R9B):c.1625+7A>G	PPP1R9B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 98484	NM_032595.5(PPP1R9B):c.1590C>T (p.Thr530=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98485	NM_032595.5(PPP1R9B):c.1582G>A (p.Val528Ile)	PPP1R9B (V528I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98486	NM_032595.5(PPP1R9B):c.1509C>T (p.Ser503=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3349015	NM_032595.5(PPP1R9B):c.1402G>T (p.Asp468Tyr)	PPP1R9B (D468Y)	Single nucleotide variant (missense variant)	PPP1R9B-related disorder	GUncertain significance
Select item 98487	NM_032595.5(PPP1R9B):c.1332C>T (p.Ala444=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3045707	NM_032595.5(PPP1R9B):c.1271C>T (p.Pro424Leu)	PPP1R9B (P424L)	Single nucleotide variant (missense variant)	PPP1R9B-related disorder	GLikely benign
Select item 98488	NM_032595.5(PPP1R9B):c.1137A>G (p.Val379=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98489	NM_032595.5(PPP1R9B):c.1131G>A (p.Glu377=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98490	NM_032595.5(PPP1R9B):c.1112C>T (p.Ala371Val)	PPP1R9B (A371V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3031187	NM_032595.5(PPP1R9B):c.1092G>T (p.Arg364Ser)	PPP1R9B (R364S)	Single nucleotide variant (missense variant)	PPP1R9B-related disorder	GLikely benign
Select item 98491	NM_032595.5(PPP1R9B):c.1092G>A (p.Arg364=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3053711	NM_032595.5(PPP1R9B):c.1089G>C (p.Glu363Asp)	PPP1R9B (E363D)	Single nucleotide variant (missense variant)	PPP1R9B-related disorder	GBenign
Select item 98492	NM_032595.5(PPP1R9B):c.1077A>G (p.Val359=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98493	NM_032595.5(PPP1R9B):c.1074G>C (p.Ala358=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98494	NM_032595.5(PPP1R9B):c.1071G>A (p.Ala357=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98495	NM_032595.5(PPP1R9B):c.1059G>C (p.Glu353Asp)	PPP1R9B (E353D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98496	NM_032595.5(PPP1R9B):c.1047A>G (p.Gln349=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98497	NM_032595.5(PPP1R9B):c.815G>C (p.Cys272Ser)	PPP1R9B (C272S)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98498	NM_032595.5(PPP1R9B):c.777C>G (p.Pro259=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3046058	NM_032595.5(PPP1R9B):c.774G>C (p.Pro258=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 3030274	NM_032595.5(PPP1R9B):c.753C>T (p.Phe251=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 98499	NM_032595.5(PPP1R9B):c.729G>A (p.Leu243=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 788608	NM_032595.5(PPP1R9B):c.660G>A (p.Ser220=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 98500	NM_032595.5(PPP1R9B):c.631C>T (p.Leu211Phe)	PPP1R9B (L211F)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98501	NM_032595.5(PPP1R9B):c.579C>G (p.Thr193=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98502	NM_032595.5(PPP1R9B):c.513G>A (p.Leu171=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98503	NM_032595.5(PPP1R9B):c.506G>A (p.Arg169Gln)	PPP1R9B (R169Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 768898	NM_032595.5(PPP1R9B):c.493_494= (p.Ala165=)	PPP1R9B	Variation (no sequence alteration)	not provided	GBenign
Select item 1686180	NM_032595.5(PPP1R9B):c.492G>C (p.Glu164Asp)	PPP1R9B (E164D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3034828	NM_032595.5(PPP1R9B):c.490_491insGC (p.Glu164fs)	PPP1R9B (E164fs)	Insertion (frameshift variant)	PPP1R9B-related disorder	GBenign
Select item 3035826	NM_032595.5(PPP1R9B):c.472_473dup (p.Ala159fs)	LOC130061148, PPP1R9B (A159fs)	Duplication (frameshift variant)	PPP1R9B-related disorder	GBenign
Select item 98504	NM_032595.5(PPP1R9B):c.462C>T (p.Ser154=)	LOC130061148, PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 98505	NM_032595.5(PPP1R9B):c.416A>C (p.His139Pro)	LOC130061148, PPP1R9B (H139P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98506	NM_032595.5(PPP1R9B):c.336G>A (p.Lys112=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3040210	NM_032595.5(PPP1R9B):c.333G>T (p.Leu111=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 2569492	NM_032595.5(PPP1R9B):c.259T>C (p.Ser87Pro)	PPP1R9B (S87P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 98507	NM_032595.5(PPP1R9B):c.253C>T (p.Arg85Trp)	PPP1R9B (R85W)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2569491	NM_032595.5(PPP1R9B):c.251C>T (p.Pro84Leu)	PPP1R9B (P84L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569490	NM_032595.5(PPP1R9B):c.241G>A (p.Ala81Thr)	PPP1R9B (A81T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3029198	NM_032595.5(PPP1R9B):c.240G>C (p.Leu80=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 2569489	NM_032595.5(PPP1R9B):c.239T>C (p.Leu80Pro)	PPP1R9B (L80P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3029795	NM_032595.5(PPP1R9B):c.234G>C (p.Ala78=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 3061697	NM_032595.5(PPP1R9B):c.222G>C (p.Ala74=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 3031776	NM_032595.5(PPP1R9B):c.222G>T (p.Ala74=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 2569488	NM_032595.5(PPP1R9B):c.209C>G (p.Pro70Arg)	PPP1R9B (P70R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485348	NM_032595.5(PPP1R9B):c.208C>T (p.Pro70Ser)	PPP1R9B (P70S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98508	NM_032595.5(PPP1R9B):c.198G>C (p.Thr66=)	PPP1R9B	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3031424	NM_032595.5(PPP1R9B):c.159C>T (p.Asn53=)	PPP1R9B	Single nucleotide variant (synonymous variant)	PPP1R9B-related disorder	GLikely benign
Select item 2226141	NM_032595.5(PPP1R9B):c.128A>T (p.Lys43Met)	PPP1R9B (K43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351516	NM_032595.5(PPP1R9B):c.79A>T (p.Ile27Phe)	PPP1R9B (I27F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474995	NM_032595.5(PPP1R9B):c.35C>G (p.Pro12Arg)	PPP1R9B (P12R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3063531	GRCh37/hg19 17q21.33(chr17:48176031-48440167)x3	COL1A1, PDK2 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2692407	Single allele	ABI3, CACNA1G +45 more	Deletion	Tricho-dento-osseous syndrome +1 more	GPathogenic
Select item 2692406	Single allele	ACSF2, COL1A1 +8 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 2692405	Single allele	SAMD14, COL1A1 +4 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 2422330	NC_000017.10:g.(?_48068881)_(48278874_?)del	COL1A1, DLX3 +5 more	Deletion	not provided	GUncertain significance
Select item 444852	GRCh37/hg19 17q21.32-22(chr17:46481089-51396368)x1	HOXB3, HOXB4 +67 more	Copy number loss	not provided	GLikely pathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 425666	Single allele	PDK2, SGCA +4 more	Deletion	Osteogenesis imperfecta type I	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 78