9707[HGNC] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154634	GRCh38/hg38 19q13.32(chr19:44848450-44882552)x1	NECTIN2	Copy number loss	See cases	GBenign
Select item 3054519	NM_001042724.2(NECTIN2):c.89-10C>T	NECTIN2	Single nucleotide variant (intron variant)	NECTIN2-related disorder	GLikely benign
Select item 2368761	NM_001042724.2(NECTIN2):c.124G>A (p.Val42Met)	NECTIN2 (V42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1172826	NM_001042724.2(NECTIN2):c.127C>T (p.Arg43Ter)	NECTIN2 (R43*)	Single nucleotide variant (nonsense)	Cerebral palsy	GUncertain significance
Select item 2236570	NM_001042724.2(NECTIN2):c.139G>A (p.Gly47Arg)	NECTIN2 (G47R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034988	NM_001042724.2(NECTIN2):c.147C>T (p.Thr49=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 3044075	NM_001042724.2(NECTIN2):c.159G>A (p.Pro53=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 3034208	NM_001042724.2(NECTIN2):c.288G>A (p.Pro96=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 3040452	NM_001042724.2(NECTIN2):c.363G>A (p.Gln121=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 781489	NM_001042724.2(NECTIN2):c.366C>T (p.Asp122=)	NECTIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3044297	NM_001042724.2(NECTIN2):c.372G>A (p.Thr124=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 3041222	NM_001042724.2(NECTIN2):c.479-16CTC[2]	NECTIN2	Microsatellite (intron variant)	NECTIN2-related disorder	GLikely benign
Select item 3041928	NM_001042724.2(NECTIN2):c.516G>A (p.Thr172=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GBenign
Select item 712411	NM_001042724.2(NECTIN2):c.526G>C (p.Asp176His)	NECTIN2 (D176H)	Single nucleotide variant (missense variant)	NECTIN2-related disorder +1 more	GBenign
Select item 3049638	NM_001042724.2(NECTIN2):c.533C>T (p.Thr178Met)	NECTIN2 (T178M)	Single nucleotide variant (missense variant)	NECTIN2-related disorder	GLikely benign
Select item 3043785	NM_001042724.2(NECTIN2):c.642C>T (p.Ala214=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 3038754	NM_001042724.2(NECTIN2):c.664C>T (p.Arg222Cys)	NECTIN2 (R222C)	Single nucleotide variant (missense variant)	NECTIN2-related disorder	GLikely benign
Select item 2650088	NM_001042724.2(NECTIN2):c.822C>T (p.Leu274=)	NECTIN2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 727455	NM_001042724.2(NECTIN2):c.857G>A (p.Arg286His)	NECTIN2 (R286H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3045373	NM_001042724.2(NECTIN2):c.912G>A (p.Pro304=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 3052752	NM_001042724.2(NECTIN2):c.918C>T (p.Ser306=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 2650089	NM_001042724.2(NECTIN2):c.1042+3795G>A	NECTIN2 (V365M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3045274	NM_001042724.2(NECTIN2):c.1042+3797G>T	NECTIN2	Single nucleotide variant (synonymous variant +1 more)	NECTIN2-related disorder	GLikely benign
Select item 3034381	NM_001042724.2(NECTIN2):c.1042+3863GAG[5]	NECTIN2	Microsatellite (inframe insertion +1 more)	NECTIN2-related disorder	GLikely benign
Select item 3038855	NM_001042724.2(NECTIN2):c.1043-3861G>A	NECTIN2	Single nucleotide variant (synonymous variant +1 more)	NECTIN2-related disorder	GLikely benign
Select item 3056189	NM_001042724.2(NECTIN2):c.1043-3840_1043-3829dup	NECTIN2	Duplication (inframe insertion +1 more)	NECTIN2-related disorder	GLikely benign
Select item 2650090	NM_001042724.2(NECTIN2):c.1043-3792G>A	NECTIN2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3059764	NM_001042724.2(NECTIN2):c.1043-3719GAG[5]	NECTIN2 (E445del)	Microsatellite (inframe deletion +1 more)	NECTIN2-related disorder	GLikely benign
Select item 773357	NM_001042724.2(NECTIN2):c.1063G>A (p.Ala355Thr)	NECTIN2 (A355T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3048395	NM_001042724.2(NECTIN2):c.1169C>T (p.Thr390Met)	NECTIN2 (T390M)	Single nucleotide variant (missense variant)	NECTIN2-related disorder	GUncertain significance
Select item 729209	NM_001042724.2(NECTIN2):c.1201G>C (p.Glu401Gln)	NECTIN2 (E401Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3045229	NM_001042724.2(NECTIN2):c.1211C>T (p.Pro404Leu)	NECTIN2 (P404L)	Single nucleotide variant (missense variant)	NECTIN2-related disorder	GLikely benign
Select item 3052913	NM_001042724.2(NECTIN2):c.1261-9C>T	NECTIN2	Single nucleotide variant (intron variant)	NECTIN2-related disorder	GBenign
Select item 3048558	NM_001042724.2(NECTIN2):c.1290G>A (p.Ser430=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 3043121	NM_001042724.2(NECTIN2):c.1320T>C (p.Phe440=)	NECTIN2	Single nucleotide variant (synonymous variant)	NECTIN2-related disorder	GLikely benign
Select item 2629589	NM_001042724.2(NECTIN2):c.1361A>G (p.Tyr454Cys)	NECTIN2 (Y454C)	Single nucleotide variant (missense variant)	NECTIN2-related disorder	GUncertain significance
Select item 726930	NM_001042724.2(NECTIN2):c.1399T>C (p.Leu467=)	NECTIN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374215	NM_001042724.2(NECTIN2):c.1415C>T (p.Thr472Ile)	NECTIN2 (T472I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
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 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 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 46