SCAND3[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 3158243	NM_052923.2(SCAND3):c.2002C>A (p.Pro668Thr)	SCAND3 (P668T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158242	NM_052923.2(SCAND3):c.1820A>G (p.Glu607Gly)	SCAND3 (E456G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316367	NM_052923.2(SCAND3):c.1808G>A (p.Cys603Tyr)	SCAND3 (C452Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158241	NM_052923.2(SCAND3):c.1700A>T (p.Glu567Val)	SCAND3 (E416V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158240	NM_052923.2(SCAND3):c.1593G>C (p.Leu531Phe)	SCAND3 (L380F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316372	NM_052923.2(SCAND3):c.1512G>A (p.Met504Ile)	SCAND3 (M353I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158239	NM_052923.2(SCAND3):c.1471A>G (p.Asn491Asp)	SCAND3 (N340D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528324	NM_052923.2(SCAND3):c.1466C>A (p.Thr489Asn)	SCAND3 (T338N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158238	NM_052923.2(SCAND3):c.1358T>C (p.Ile453Thr)	SCAND3 (I453T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158237	NM_052923.2(SCAND3):c.1351A>C (p.Ser451Arg)	SCAND3 (S300R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158236	NM_052923.2(SCAND3):c.1245G>A (p.Thr415=)	SCAND3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3158235	NM_052923.2(SCAND3):c.1195C>G (p.Leu399Val)	SCAND3 (L399V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158234	NM_052923.2(SCAND3):c.1104T>G (p.Ile368Met)	SCAND3 (I217M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158233	NM_052923.2(SCAND3):c.1040C>T (p.Thr347Ile)	SCAND3 (T347I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525325	NM_052923.2(SCAND3):c.974G>A (p.Arg325His)	SCAND3 (R174H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557165	NM_052923.2(SCAND3):c.913G>A (p.Glu305Lys)	SCAND3 (E154K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158250	NM_052923.2(SCAND3):c.895C>T (p.Arg299Trp)	SCAND3 (R148W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316370	NM_052923.2(SCAND3):c.815G>A (p.Arg272His)	SCAND3 (R272H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316371	NM_052923.2(SCAND3):c.773A>G (p.Glu258Gly)	SCAND3 (E258G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158248	NM_052923.2(SCAND3):c.571T>C (p.Ser191Pro)	SCAND3 (S40P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158247	NM_052923.2(SCAND3):c.553C>G (p.Pro185Ala)	SCAND3 (P34A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158245	NM_052923.2(SCAND3):c.370G>A (p.Val124Met)	SCAND3 (V124M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558494	NM_052923.2(SCAND3):c.331T>G (p.Trp111Gly)	SCAND3 (W111G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158244	NM_052923.2(SCAND3):c.256C>T (p.His86Tyr)	SCAND3 (H86Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316366	NM_052923.2(SCAND3):c.253A>G (p.Ile85Val)	SCAND3 (I85V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316369	NM_052923.2(SCAND3):c.233G>A (p.Arg78His)	SCAND3 (R78H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493475	NM_052923.2(SCAND3):c.158A>T (p.Gln53Leu)	SCAND3 (Q53L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3316368	NM_052923.2(SCAND3):c.134C>T (p.Ser45Phe)	SCAND3 (S45F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3158249	NM_052923.2(SCAND3):c.79G>T (p.Val27Phe)	SCAND3 (V27F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523374	NM_052923.2(SCAND3):c.37G>C (p.Gly13Arg)	SCAND3 (G13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 36