CD37[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 789460	NM_001774.3(CD37):c.132G>C (p.Val44=)	CD37, SLC6A16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2480435	NM_001774.3(CD37):c.173C>A (p.Ser58Tyr)	CD37, SLC6A16 (S58Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 736419	NM_001774.3(CD37):c.364G>A (p.Val122Ile)	CD37, SLC6A16 (V54I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3140575	NM_001774.3(CD37):c.367G>T (p.Val123Leu)	CD37, SLC6A16 (V55L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274644	NM_001774.3(CD37):c.508A>G (p.Asn170Asp)	CD37, SLC6A16 (N102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477445	NM_001774.3(CD37):c.638G>A (p.Ser213Asn)	CD37, SLC6A16 (S213N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 714892	NM_001774.3(CD37):c.685-7C>T	CD37, SLC6A16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2407916	NM_001774.3(CD37):c.740G>T (p.Gly247Val)	CD37, SLC6A16 (G247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389806	NM_001774.3(CD37):c.825C>A (p.Asn275Lys)	CD37, SLC6A16 (N275K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140576	NM_001774.3(CD37):c.841C>T (p.Arg281Cys)	CD37, SLC6A16 (R213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	PTOV1-AS2, SLC17A7 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 564587	GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3	TRPM4, CD37 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394528	GRCh37/hg19 19q13.33(chr19:49839408-49844174)x3	CD37, TEAD2	Copy number gain	See cases	GLikely benign

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Items: 23