6155[geneid] - ClinVar

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Items: 56

	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 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1270607	NM_000988.5(RPL27):c.-25del	LOC126862570, RPL27	Deletion (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1240832	NM_000988.5(RPL27):c.-20G>C	LOC126862570, RPL27	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 1182827	NM_000988.5(RPL27):c.-3+33C>T	LOC126862570, RPL27	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 417776	NM_000988.5(RPL27):c.-2-1G>A	RPL27, LOC126862570	Single nucleotide variant (5 prime UTR variant +1 more)	Diamond-Blackfan anemia 16	GPathogenic
Select item 2631045	NM_000988.5(RPL27):c.6C>T (p.Gly2=)	LOC126862570, RPL27	Single nucleotide variant (synonymous variant +1 more)	RPL27-related disorder	GUncertain significance
Select item 1338117	NM_000988.5(RPL27):c.33G>A (p.Val11=)	LOC126862570, RPL27	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2008104	NM_000988.5(RPL27):c.37G>C (p.Val13Leu)	LOC126862570, RPL27 (V13L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3068075	NM_000988.5(RPL27):c.40C>G (p.Leu14Val)	LOC126862570, RPL27 (L14V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 16	GUncertain significance
Select item 2779251	NM_000988.5(RPL27):c.43G>T (p.Ala15Ser)	LOC126862570, RPL27 (A15S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2406638	NM_000988.5(RPL27):c.61C>G (p.Arg21Gly)	LOC126862570, RPL27 (R21G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2632200	NM_000988.5(RPL27):c.67G>T (p.Ala23Ser)	LOC126862570, RPL27 (A23S)	Single nucleotide variant (missense variant +1 more)	RPL27-related disorder	GUncertain significance
Select item 744056	NM_000988.5(RPL27):c.75C>T (p.Ile25=)	LOC126862570, RPL27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2805202	NM_000988.5(RPL27):c.81+7G>C	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2570988	NM_000988.5(RPL27):c.81+68G>A	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251530	NM_000988.5(RPL27):c.81+101G>A	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292753	NM_000988.5(RPL27):c.81+135T>C	LOC126862570, RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263870	NM_000988.5(RPL27):c.82-207G>A	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 727027	NM_000988.5(RPL27):c.90T>C (p.Asp30=)	RPL27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2086973	NM_000988.5(RPL27):c.95G>T (p.Gly32Val)	RPL27 (G32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779252	NM_000988.5(RPL27):c.124C>G (p.Leu42Val)	RPL27 (L42V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131996	NM_000988.5(RPL27):c.142C>T (p.Arg48Cys)	RPL27 (R48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804699	NM_000988.5(RPL27):c.145_147delinsCAG (p.Tyr49Gln)	RPL27 (Y49Q)	Indel (missense variant)	not specified	GUncertain significance
Select item 3015524	NM_000988.5(RPL27):c.155A>G (p.Lys52Arg)	RPL27 (K52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769130	NM_000988.5(RPL27):c.167C>T (p.Ala56Val)	RPL27 (A56V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015907	NM_000988.5(RPL27):c.180G>T (p.Lys60Asn)	RPL27 (K60N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715462	NM_000988.5(RPL27):c.180G>A (p.Lys60=)	RPL27	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1972174	NM_000988.5(RPL27):c.186C>T (p.Ile62=)	RPL27	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1976131	NM_000988.5(RPL27):c.224A>G (p.Tyr75Cys)	RPL27 (Y75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292743	NM_000988.5(RPL27):c.252-226C>G	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221528	NM_000988.5(RPL27):c.252-200G>C	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290197	NM_000988.5(RPL27):c.252-90C>T	RPL27	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2872923	NM_000988.5(RPL27):c.252-15C>T	RPL27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875423	NM_000988.5(RPL27):c.270C>G (p.Pro90=)	RPL27	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2060062	NM_000988.5(RPL27):c.286G>A (p.Val96Ile)	RPL27 (V96I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2799805	NM_000988.5(RPL27):c.323G>T (p.Arg108Leu)	RPL27 (R108L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2887247	NM_000988.5(RPL27):c.332G>A (p.Arg111Gln)	RPL27 (R111Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2636838	NM_000988.5(RPL27):c.335G>A (p.Arg112Gln)	RPL27 (R112Q)	Single nucleotide variant (missense variant +1 more)	RPL27-related disorder	GUncertain significance
Select item 2071322	NM_000988.5(RPL27):c.336G>A (p.Arg112=)	RPL27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2873585	NM_000988.5(RPL27):c.342C>T (p.Ala114=)	RPL27	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2723139	NM_000988.5(RPL27):c.354T>C (p.Phe118=)	RPL27	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2874236	NM_000988.5(RPL27):c.362+17_362+18delinsCA	RPL27	Indel (intron variant)	not provided	GUncertain significance
Select item 1243778	NM_000988.5(RPL27):c.362+17A>C	RPL27	Single nucleotide variant (intron variant)	Diamond-Blackfan anemia 16 +1 more	GBenign
Select item 1977714	NM_000988.5(RPL27):c.362+19T>A	RPL27	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2881760	NM_000988.5(RPL27):c.363-10dup	RPL27	Duplication (intron variant)	not provided	GBenign
Select item 2755652	NM_000988.5(RPL27):c.363-8C>T	RPL27	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683516	NM_000988.5(RPL27):c.403C>T (p.Arg135Trp)	RPL27 (R135W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1272232	NC_000017.11:g.43003227C>T	RPL27	Single nucleotide variant	not provided	GBenign
Select item 3243127	NC_000017.10:g.(?_41154670)_(41277500_?)dup	BRCA1, IFI35 +3 more	Duplication	not provided	GUncertain significance
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 2423446	NC_000017.10:g.(?_41052894)_(41154937_?)dup	AARSD1, G6PC1 +4 more	Duplication	not provided	GUncertain significance
Select item 1809350	GRCh37/hg19 17q21.31(chr17:41105913-41307101)x3	AARSD1, BRCA1 +8 more	Copy number gain	not provided	GUncertain significance
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

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Items: 56