SDR16C5[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150770	GRCh38/hg38 8p12-q12.1(chr8:36580103-59618998)x3	ADAM18, ADAM2 +543 more	Copy number gain	See cases	GPathogenic
Select item 144238	GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3	ADHFE1, ALKAL1 +491 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 154575	GRCh38/hg38 8q11.21-12.1(chr8:49471778-57825470)x1	ALKAL1, ATP6V1H +175 more	Copy number loss	See cases	GPathogenic
Select item 155115	GRCh38/hg38 8q11.23-12.3(chr8:53325389-61863018)x1	ASPH, ATP6V1H +228 more	Copy number loss	See cases	GPathogenic
Select item 154925	GRCh38/hg38 8q12.1(chr8:54764950-56785299)x1	CERNA3, CHCHD7 +69 more	Copy number loss	See cases	GPathogenic
Select item 151958	GRCh38/hg38 8q12.1-12.2(chr8:54821357-61146302)x1	BPNT2, CA8 +175 more	Copy number loss	See cases	GPathogenic
Select item 148601	GRCh38/hg38 8q12.1-12.3(chr8:55315854-64952752)x3	ASPH, BHLHE22 +222 more	Copy number gain	See cases	GPathogenic
Select item 60362	GRCh38/hg38 8q12.1(chr8:55423413-58836753)x1	BPNT2, CERNA3 +105 more	Copy number loss	See cases	GPathogenic
Select item 155711	GRCh38/hg38 8q12.1(chr8:56220544-57002161)x3	BPNT2, LINC00968 +11 more	Copy number gain	See cases	GUncertain significance
Select item 2291132	NM_138969.4(SDR16C5):c.815A>G (p.Tyr272Cys)	SDR16C5 (Y272C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380786	NM_138969.4(SDR16C5):c.802C>A (p.Pro268Thr)	SDR16C5 (P224T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159059	NM_138969.4(SDR16C5):c.789G>A (p.Met263Ile)	SDR16C5 (M263I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479495	NM_138969.4(SDR16C5):c.751G>T (p.Val251Phe)	SDR16C5 (V207F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266410	NM_138969.4(SDR16C5):c.736G>A (p.Glu246Lys)	SDR16C5 (E246K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602082	NM_138969.4(SDR16C5):c.676A>G (p.Ile226Val)	SDR16C5 (I182V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335764	NM_138969.4(SDR16C5):c.629T>C (p.Val210Ala)	SDR16C5 (V166A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2410413	NM_138969.4(SDR16C5):c.628G>C (p.Val210Leu)	SDR16C5 (V166L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367992	NM_138969.4(SDR16C5):c.530G>C (p.Ser177Thr)	SDR16C5 (S133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317286	NM_138969.4(SDR16C5):c.460T>G (p.Leu154Val)	SDR16C5 (L154V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311613	NM_138969.4(SDR16C5):c.367A>T (p.Ile123Phe)	SDR16C5 (I123F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258514	NM_138969.4(SDR16C5):c.349G>A (p.Gly117Ser)	SDR16C5 (G117S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510309	NM_138969.4(SDR16C5):c.332A>G (p.Gln111Arg)	SDR16C5 (Q111R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323558	NM_138969.4(SDR16C5):c.296G>A (p.Cys99Tyr)	SDR16C5 (C99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159058	NM_138969.4(SDR16C5):c.290G>A (p.Cys97Tyr)	SDR16C5 (C97Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3159057	NM_138969.4(SDR16C5):c.254G>A (p.Arg85Gln)	SDR16C5 (R85Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2407415	NM_138969.4(SDR16C5):c.218A>G (p.Asn73Ser)	SDR16C5 (N73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316989	NM_138969.4(SDR16C5):c.136A>C (p.Thr46Pro)	SDR16C5 (T46P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316988	NM_138969.4(SDR16C5):c.136A>G (p.Thr46Ala)	SDR16C5 (T46A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316987	NM_138969.4(SDR16C5):c.118G>C (p.Gly40Arg)	SDR16C5 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327270	NM_138969.4(SDR16C5):c.94C>T (p.Pro32Ser)	SDR16C5 (P32S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685311	GRCh37/hg19 8q12.1(chr8:57048524-58117681)x1	BPNT2, CHCHD7 +3 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1511848	NC_000008.10:g.(?_56854419)_(57906144_?)dup	PENK, SDR16C5 +6 more	Duplication	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 685558	GRCh37/hg19 8p11.22-q12.3(chr8:39555657-64049089)x3	IDO1, IDO2 +78 more	Copy number gain	not provided	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic
Select item 253344	GRCh37/hg19 8q12.1(chr8:56405320-57358911)x1	TGS1, PENK +8 more	Copy number loss	See cases	GLikely pathogenic
Select item 252969	GRCh37/hg19 8q11.23-12.3(chr8:53436131-65195953)x3	ALKAL1, ASPH +36 more	Copy number gain	See cases	GPathogenic

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Items: 51