LIN7B[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 3290771	NM_022165.3(LIN7B):c.20C>T (p.Pro7Leu)	LIN7B, LOC130064901 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118942	NM_022165.3(LIN7B):c.35G>C (p.Arg12Pro)	LIN7B, LOC130064901 (R12P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279757	NM_022165.3(LIN7B):c.37+8T>C	LIN7B, LOC130064901	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2225963	NM_022165.3(LIN7B):c.47G>A (p.Arg16Gln)	LIN7B (R16Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622975	NM_022165.3(LIN7B):c.64G>C (p.Glu22Gln)	LIN7B (E22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522223	NM_022165.3(LIN7B):c.92C>T (p.Pro31Leu)	LIN7B (P31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369180	NM_022165.3(LIN7B):c.109G>A (p.Ala37Thr)	LIN7B (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254565	NM_022165.3(LIN7B):c.150C>G (p.Ile50Met)	LIN7B (I50M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701732	NM_022165.3(LIN7B):c.156+8G>C	LIN7B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3046227	NM_022165.3(LIN7B):c.180G>T (p.Thr60=)	LIN7B	Single nucleotide variant (synonymous variant)	LIN7B-related disorder	GLikely benign
Select item 3290769	NM_022165.3(LIN7B):c.199G>A (p.Ala67Thr)	LIN7B (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051036	NM_022165.3(LIN7B):c.201C>A (p.Ala67=)	LIN7B	Single nucleotide variant (synonymous variant)	LIN7B-related disorder	GLikely benign
Select item 2471784	NM_022165.3(LIN7B):c.215A>G (p.His72Arg)	LIN7B (H72R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290772	NM_022165.3(LIN7B):c.221C>T (p.Thr74Ile)	LIN7B (T74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118939	NM_022165.3(LIN7B):c.270T>G (p.His90Gln)	LIN7B (H90Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118940	NM_022165.3(LIN7B):c.284A>G (p.Glu95Gly)	LIN7B (E95G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118941	NM_022165.3(LIN7B):c.296C>T (p.Thr99Met)	LIN7B (T99M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290773	NM_022165.3(LIN7B):c.433G>C (p.Gly145Arg)	LIN7B (G145R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374821	NM_022165.3(LIN7B):c.449G>T (p.Gly150Val)	LIN7B (G80V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290770	NM_022165.3(LIN7B):c.473A>G (p.Glu158Gly)	LIN7B (E88G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118943	NM_022165.3(LIN7B):c.511G>C (p.Val171Leu)	LIN7B (V101L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290774	NM_022165.3(LIN7B):c.514C>A (p.Arg172Ser)	LIN7B (R102S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118944	NM_022165.3(LIN7B):c.575G>A (p.Arg192His)	LIN7B (R122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780177	NM_022165.3(LIN7B):c.603-8C>G	LIN7B	Single nucleotide variant (intron variant)	not provided	GBenign
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 2426330	NC_000019.9:g.(?_49472545)_(49714755_?)del	C19orf73, CGB1 +15 more	Deletion	Progressive familial heart block type IB	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	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 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 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
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

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Items: 35