Related gene-specific medical variations for Gene (Select 84002) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3132593	NM_032047.5(B3GNT5):c.981A>T (p.Glu327Asp)	B3GNT5, MCF2L2 (E327D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132592	NM_032047.5(B3GNT5):c.947A>G (p.Tyr316Cys)	B3GNT5, MCF2L2 (Y316C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132591	NM_032047.5(B3GNT5):c.820A>G (p.Thr274Ala)	B3GNT5, MCF2L2 (T274A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132590	NM_032047.5(B3GNT5):c.665G>A (p.Arg222His)	B3GNT5, MCF2L2 (R222H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132589	NM_032047.5(B3GNT5):c.466A>G (p.Ile156Val)	B3GNT5, MCF2L2 (I156V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3132588	NM_032047.5(B3GNT5):c.13G>C (p.Val5Leu)	B3GNT5, MCF2L2 (V5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132587	NM_032047.5(B3GNT5):c.106G>A (p.Asp36Asn)	B3GNT5, MCF2L2 (D36N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623963	NM_032047.5(B3GNT5):c.722A>G (p.Tyr241Cys)	B3GNT5, MCF2L2 (Y241C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623962	NM_032047.5(B3GNT5):c.293C>T (p.Pro98Leu)	B3GNT5, MCF2L2 (P98L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621209	NM_032047.5(B3GNT5):c.805T>G (p.Tyr269Asp)	B3GNT5, MCF2L2 (Y269D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604413	NM_032047.5(B3GNT5):c.407C>T (p.Pro136Leu)	B3GNT5, MCF2L2 (P136L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591851	NM_032047.5(B3GNT5):c.883A>G (p.Ile295Val)	B3GNT5, MCF2L2 (I295V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478720	NM_032047.5(B3GNT5):c.428A>G (p.Gln143Arg)	B3GNT5, MCF2L2 (Q143R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460921	NM_032047.5(B3GNT5):c.554A>G (p.His185Arg)	B3GNT5, MCF2L2 (H185R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395728	NM_032047.5(B3GNT5):c.316G>A (p.Gly106Arg)	B3GNT5, MCF2L2 (G106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386549	NM_032047.5(B3GNT5):c.853T>C (p.Phe285Leu)	B3GNT5, MCF2L2 (F285L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380873	NM_032047.5(B3GNT5):c.37T>C (p.Trp13Arg)	B3GNT5, MCF2L2 (W13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366756	NM_032047.5(B3GNT5):c.890C>T (p.Pro297Leu)	B3GNT5, MCF2L2 (P297L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363879	NM_032047.5(B3GNT5):c.784G>A (p.Gly262Ser)	B3GNT5, MCF2L2 (G262S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2330414	NM_032047.5(B3GNT5):c.808G>A (p.Glu270Lys)	B3GNT5, MCF2L2 (E270K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306359	NM_032047.5(B3GNT5):c.385T>A (p.Phe129Ile)	B3GNT5, MCF2L2 (F129I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234076	NM_032047.5(B3GNT5):c.23G>C (p.Arg8Thr)	B3GNT5, MCF2L2 (R8T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 22