ClinVar for Gene (Select 1628) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3270928	NM_001352.5(DBP):c.329C>T (p.Pro110Leu)	DBP (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080209	NM_001352.5(DBP):c.68C>G (p.Pro23Arg)	DBP (P23R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080208	NM_001352.5(DBP):c.557C>T (p.Thr186Ile)	DBP (T186I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080207	NM_001352.5(DBP):c.511G>T (p.Ala171Ser)	DBP, LOC130064871 (A171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080206	NM_001352.5(DBP):c.425C>T (p.Pro142Leu)	DBP, LOC130064871 (P142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080205	NM_001352.5(DBP):c.283C>G (p.Pro95Ala)	DBP (P95A)	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 2594802	NM_001352.5(DBP):c.446C>T (p.Ala149Val)	DBP, LOC130064871 (A149V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529379	NM_001352.5(DBP):c.236G>T (p.Gly79Val)	DBP, LOC130064872 (G79V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494090	NM_001352.5(DBP):c.677G>A (p.Arg226Gln)	DBP (R226Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378236	NM_001352.5(DBP):c.159G>T (p.Glu53Asp)	DBP (E53D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377734	NM_001352.5(DBP):c.562C>T (p.Arg188Trp)	DBP (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346267	NM_001352.5(DBP):c.487C>G (p.Arg163Gly)	DBP, LOC130064871 (R163G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327670	NM_001352.5(DBP):c.683A>G (p.His228Arg)	DBP (H228R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299295	NM_001352.5(DBP):c.43C>G (p.Leu15Val)	DBP (L15V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265406	NM_001352.5(DBP):c.176C>T (p.Pro59Leu)	DBP (P59L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214825	NM_001352.5(DBP):c.140G>A (p.Cys47Tyr)	DBP (C47Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 774960	NM_001352.5(DBP):c.912G>A (p.Val304=)	DBP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 755604	NM_001352.5(DBP):c.468G>A (p.Ser156=)	DBP, LOC130064871	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 754053	NM_001352.5(DBP):c.750G>A (p.Pro250=)	DBP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712816	NM_001352.5(DBP):c.70G>A (p.Gly24Ser)	DBP (G24S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 33